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1.
Comput Struct Biotechnol J ; 23: 834-842, 2024 Dec.
Article in English | MEDLINE | ID: mdl-38328005

ABSTRACT

It is increasingly recognized that an important step towards improving overall health is to accurately measure biomarkers of health from the molecular activities prevalent in the oral cavity. We present a general methodology for computationally quantifying the activity of microbial functional pathways using metatranscriptomic data. We describe their implementation as a collection of eight oral pathway scores using a large salivary sample dataset (n = 9350), and we evaluate score associations with oropharyngeal disease phenotypes within an unseen independent cohort (n = 14,129). Through this validation, we show that the relevant oral pathway scores are significantly worse in individuals with periodontal disease, acid reflux, and nicotine addiction, compared with controls. Given these associations, we make the case to use these oral pathway scores to provide molecular health insights from simple, non-invasive saliva samples, and as molecular endpoints for actionable interventions to address the associated conditions.

2.
Oral Oncol ; 145: 106480, 2023 10.
Article in English | MEDLINE | ID: mdl-37454545

ABSTRACT

OBJECTIVE: Oral squamous cell carcinoma (OSCC) and oropharyngeal squamous cell carcinoma (OPSCC) can go undetected resulting in late detection and poor outcomes. We describe the development and validation of CancerDetect for Oral & Throat cancer™ (CDOT), to detect markers of OSCC and/or OPSCC within a high-risk population. MATERIAL AND METHODS: We collected saliva samples from 1,175 individuals who were 50 years or older, or adults with a tobacco use history. 945 of those were used to train a classifier using machine learning methods, resulting in a salivary microbial and human metatranscriptomic signature. The classifier was then independently validated on the 230 remaining samples prospectively collected and unseen by the classifier, consisting of 20 OSCC (all stages), 76 OPSCC (all stages), and 134 negatives (including 14 pre-malignant). RESULTS: On the validation cohort, the specificity of the CDOT test was 94 %, sensitivity was 90 % for participants with OSCC, and 84.2 % for participants with OPSCC. Similar classification results were observed among people in early stage (stages I & II) vs late stage (stages III & IV). CONCLUSIONS: CDOT is a non-invasive test that can be easily administered in dentist offices, primary care centres and specialised cancer clinics for early detection of OPSCC and OSCC. This test, having received FDA's breakthrough designation for accelerated review, has the potential to enable early diagnosis, saving lives and significantly reducing healthcare expenditure.


Subject(s)
Carcinoma, Squamous Cell , Head and Neck Neoplasms , Mouth Neoplasms , Adult , Humans , Mouth Neoplasms/diagnosis , Mouth Neoplasms/genetics , Mouth Neoplasms/pathology , Carcinoma, Squamous Cell/pathology , Pharynx/pathology , Squamous Cell Carcinoma of Head and Neck , RNA , Saliva , Biomarkers, Tumor
3.
BMC Cancer ; 23(1): 352, 2023 Apr 17.
Article in English | MEDLINE | ID: mdl-37069542

ABSTRACT

BACKGROUND: KRAS mutations occur frequently in advanced non-small cell lung cancer (aNSCLC); the G12C mutation is the most prevalent. Alterations in STK11 or KEAP1 commonly co-occur with KRAS mutations in aNSCLC. Using real-world data, we assessed the effect of KRAS G12C mutation with or without STK11 and/or KEAP1 mutations on overall survival (OS) in patients with aNSCLC receiving cancer immunotherapy (CIT), chemotherapy, or both in first line (1L) and second line (2L). METHODS: Patients diagnosed with aNSCLC between January 2011 and March 2020 in a clinico-genomic database were included. Cox proportional hazards models adjusted for left truncation, baseline demographics and clinical characteristics were used to analyze the effect of STK11 and/or KEAP1 co-mutational status on OS in patients with KRAS wild-type (WT) or G12C mutation. RESULTS: Of 2715 patients with aNSCLC without other actionable driver mutations, 1344 (49.5%) had KRAS WT cancer, and 454 (16.7%) had KRAS G12C-positive cancer. At 1L treatment start, significantly more patients with KRAS G12C-positive cancer were female, smokers, and had non-squamous histology, a higher prevalence of metastasis and programmed death-ligand 1 positivity than those with KRAS WT cancer. Median OS was comparable between patients with KRAS G12C-positive and KRAS WT cancer when receiving chemotherapy or combination CIT and chemotherapy in the 1L or 2L. Median OS was numerically longer in patients with KRAS G12C vs KRAS WT cancer treated with 1L CIT (30.2 vs 10.6 months, respectively) or 2L CIT (11.3 vs 7.6 months, respectively). Co-mutation of STK11 and KEAP1 was associated with significantly shorter OS in patients receiving any type of 1L therapy, regardless of KRAS G12C mutational status. CONCLUSIONS: This real-world study showed that patients with KRAS G12C-positive or KRAS WT cancer have similar OS in the 1L or 2L when treated with chemotherapy or combination CIT and chemotherapy. In contrast to aNSCLC patients with EGFR or ALK driver mutations, patients with KRAS G12C-positive cancer may benefit from CIT monotherapy. Co-mutation of STK11 and KEAP1 was associated with significantly shorter survival, independent of KRAS G12C mutational status, reflecting the poor prognosis and high unmet need in this patient population.


Subject(s)
Antineoplastic Agents , Carcinoma, Non-Small-Cell Lung , Immunotherapy , Lung Neoplasms , Mutation , Carcinoma, Non-Small-Cell Lung/drug therapy , Carcinoma, Non-Small-Cell Lung/genetics , Lung Neoplasms/drug therapy , Lung Neoplasms/genetics , Survival Rate , Humans , Male , Female , Adolescent , Young Adult , Adult , Middle Aged , Aged , Antineoplastic Agents/therapeutic use
4.
Scientometrics ; 127(11): 6339-6362, 2022.
Article in English | MEDLINE | ID: mdl-36246789

ABSTRACT

This study attempts to analyze patents as cited/mentioned documents to better understand the interest, dissemination and engagement of these documents in social environments, laying the foundations for social media studies of patents (social Patentometrics).Particularly, this study aims to determine how patents are disseminated on Twitter by analyzing three elements: tweets linking to patents, users linking to patents, and patents linked from Twitter. To do this, all the tweets containing at least one link to a full-text patent available on Google Patents were collected and analyzed, yielding a total of 126,815 tweets (and 129,001 links) to 86,417 patents. The results evidence an increase of the number of linking tweets over the years, presumably due to the creation of a standardized patent URL ID and the integration of Google Patents and Google Scholar, which took place in 2015. The engagement achieved by these tweets is limited (80.2% of tweets did not attract likes) but increasing notably since 2018. Two super-publisher twitter bot accounts (dailypatent and uspatentbot) are responsible of 53.3% of all the linking tweets, while most accounts are sporadic users linking to patent as part of a conversation. The patents most tweeted are, by far, from United States (87.5% of all links to Google Patents), mainly due to the effect of the two super-publishers. The impact of patents in terms of the number of tweets linking to them is unrelated to their year of publication, status or number of patent citations received, while controversial and media topics might be more determinant factors. However, further research is needed to better understand the topics discussed around patents on Twitter, the users involved, and the metrics attained. Given the increasing number of linking users and linked patents, this study finds Twitter as a relevant source to measure patent-level metrics, shedding light on the impact and interest of patents by the broad public.

5.
Future Oncol ; 18(18): 2233-2245, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35441522

ABSTRACT

Aim: To assess overall survival (OS) in patients with advanced BRAF-mutant melanoma by first-line (1L) targeted therapy (TT) or checkpoint inhibitor (CPI) use, second-line (2L) TT or CPI use, and treatment sequence. Patients & methods: Advanced BRAF-mutant melanoma patients treated with 1L CPI or TT were selected from a real-world, electronic health record-derived database. Results: CPI was associated with improved survival after adjustment for potential confounders (hazard ratio, 0.75 [95% CI, 0.66-0.87]). Median OS was similar between 2L therapies and among likely treatment sequences. Conclusion: This real-world study demonstrated a survival benefit with 1L CPI versus TT. Analyses of 2L and treatment sequences were unable to detect or rule out clinically relevant differences in OS.


Immune checkpoint inhibitors and targeted therapies are the preferred treatment options for patients with advanced BRAF-mutant melanoma, with more patients starting first-line treatment with checkpoint inhibitors in the real world. Our study suggests that starting treatment with checkpoint inhibitors instead of targeted therapies may improve survival; however, we were unable to determine the optimal sequence of treatments that patients should be given. The findings of this study highlight the need for further investigation into the optimal treatment sequence with checkpoint inhibitors and targeted therapies in advanced BRAF-mutant melanoma.


Subject(s)
Melanoma , Proto-Oncogene Proteins B-raf , Humans , Immunologic Factors/therapeutic use , Immunotherapy , Melanoma/drug therapy , Melanoma/genetics , Molecular Targeted Therapy , Mutation , Proto-Oncogene Proteins B-raf/genetics , Retrospective Studies
6.
Cancer Rep (Hoboken) ; 5(10): e1578, 2022 10.
Article in English | MEDLINE | ID: mdl-35075804

ABSTRACT

BACKGROUND AND AIM: The objective of this retrospective, observational, noninterventional cohort study was to investigate prognostic factors of overall survival (OS) in patients with advanced non-small cell lung cancer (aNSCLC) and to develop a novel prognostic model. METHODS: A total of 4049 patients with aNSCLC diagnosed between January 2011 and February 2020 who received atezolizumab, nivolumab, or pembrolizumab as second-line monotherapy were selected from a real-world deidentified database to build the cohort. Patients could not have received first-line treatment with clinical study drug(s) nor immune checkpoint inhibitors including anti-programmed cell death 1 (PD-1)/programmed death-ligand 1 (PD-L1), and anti-cytotoxic T-lymphocyte-associated protein 4 therapies. RESULTS: Patients had a median age of 69 years; 45% were female, 75% White, 70% had stage IV at initial diagnosis, and 70% had nonsquamous histology. A Cox proportional hazards model with lasso regularization was used to build a prognostic model for OS using 18 baseline demographic and clinical factors based on the real-world data cohort. The risk-increasing prognostic factors were abnormally low albumin and chloride levels, Eastern Cooperative Oncology Group performance status score ≥ 2, and abnormally high levels of alkaline phosphatase and white blood cells. The risk-decreasing prognostic factors were PD-L1 positivity, longer time from advanced diagnosis to start of first-line therapy, and higher systolic blood pressure. The performance of the model was validated using data from the OAK trial, and the c-index for the OAK trial validation cohort was 0.65 and 0.67 for the real-world data cohort. CONCLUSIONS: Based on baseline demographic and clinical factors from a real-world setting, this prognostic model was developed to discriminate the risk of death in patients with aNSCLC treated with checkpoint inhibitors as second-line monotherapy, and it performed well in the real-world data and clinical trial cohorts.


Subject(s)
Antineoplastic Agents, Immunological , Carcinoma, Non-Small-Cell Lung , Lung Neoplasms , Programmed Cell Death 1 Receptor/immunology , Aged , Albumins , Alkaline Phosphatase/therapeutic use , Antineoplastic Agents, Immunological/therapeutic use , B7-H1 Antigen/metabolism , Chlorides/therapeutic use , Cohort Studies , Female , Humans , Immune Checkpoint Inhibitors/therapeutic use , Male , Nivolumab , Prognosis , Retrospective Studies
7.
Public Health Nutr ; : 1-11, 2020 Apr 20.
Article in English | MEDLINE | ID: mdl-33052082

ABSTRACT

OBJECTIVE: To develop a scale to assess health motivation influencing food choices and to explore its performance in the associations with food intakes and nutritional biomarkers. DESIGN: Psychometric study using cross-sectional self-report questionnaires and nutritional biomarkers. SETTING: Multi-centre investigation conducted in ten European cities. PARTICIPANTS: 2954 adolescents who were included in the HELENA study and completed the Food Choices and Preferences (FCP) questionnaire. RESULTS: Nineteen out of 124 items of the FCP questionnaire were in the same dimension. Sixteen presented adequate parameters for the Scale of evaluatiOn of Food choIcEs (SOFIE). The scores were positively associated with the intakes of cereals, dairy products, meats and eggs, and fish, as well as with blood concentrations of vitamin C, ß-carotene, n-3 fatty acids, cobalamin, holo-transcobalamin and folate; scores were negatively associated with the intake of alcohol. CONCLUSIONS: SOFIE can improve the assessment of motivation influencing food choices based on items with the best performance and is proposed as a new measure to health-related studies.

8.
Food Chem ; 330: 127231, 2020 Nov 15.
Article in English | MEDLINE | ID: mdl-32535317

ABSTRACT

A standardised methodology was used to compile and validate a methyl-group carrier database (MGDB) including folate, choline, betaine and methionine, for use in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. Compilation was performed by following structured guidelines to match the EPIC dietary intake data to food items from four food composition databases, according to their assigned priority of use. To assess relative validity, calculated dietary folate intakes were compared between the MGDB and the EPIC nutrient database (ENDB), used as the reference database. Folate intakes based on the MGDB and those generated using the ENDB showed good agreement (weighted κ = 0.63) and were strongly correlated (r = 0.81). This MGDB can be used for investigating potential associations between methyl-group carrier intakes and risk or prognosis of cancer and other diseases in the EPIC study population.


Subject(s)
Food Analysis , Neoplasms , Databases, Factual , Food , Humans , Nutrition Assessment , Nutritional Status , Prospective Studies
9.
J Sports Med Phys Fitness ; 60(5): 720-732, 2020 May.
Article in English | MEDLINE | ID: mdl-32438788

ABSTRACT

INTRODUCTION: This review aimed 1) to describe the most common tests used for assessing change of direction (COD) performance; 2) to detail the reliability of current COD tests; 3) to provide an overview of current intervention strategies used to improve COD performance in adolescent female soccer players. EVIDENCE ACQUISITION: A computerized search was conducted in the PubMed, Cochrane Plus and Web of Science (from 1995 to January 2020) for English and Spanish language and peer-reviewed investigations. EVIDENCE SYNTHESIS: A total of 221 studies were identified, with only 16 meeting the specific search criteria. The main findings were that eleven different tests have been used to assess COD performance with intraclass correlation coefficient and coefficient of variation values between 0.72-0.99 and 1-10.6%, respectively. The number of CODs performed during each test ranged from 1 to 9 within a range of 45º to 180º and with a duration <5 s, 5-9 s and >10 s. CONCLUSIONS: Findings indicate that the reliability of the COD tests seems to depend on: the equipment used, the surface tested on and the technical level of the soccer player. These results should be interpreted with caution as they may be influenced by the period of growth and maturation, the playing position of the player and the period of the soccer season. Finally, strength and power drills could be considered as appropriate to improve COD performance.


Subject(s)
Exercise Test/standards , Running/physiology , Soccer/physiology , Adolescent , Female , Humans , Reproducibility of Results
11.
Public Health Nutr ; 22(13): 2381-2397, 2019 09.
Article in English | MEDLINE | ID: mdl-31204628

ABSTRACT

OBJECTIVE: To investigate whether adherence to the adapted Mediterranean Diet Score for Adolescents (MDS_A) and the adapted Mediterranean Diet Quality Index for Adolescents (KIDMED_A) is associated with better food/nutrient intakes and nutritional biomarkers. DESIGN: The Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) study is a cross-sectional study aiming to obtain comparable data on a variety of nutritional and health-related parameters in European adolescents aged 12·5-17·5 years. SETTING: Nine European countries. PARTICIPANTS: European adolescents (n 2330) recruited to the HELENA study. Dietary intake was obtained with 24 h dietary recalls, an FFQ and a Food Choices and Preferences questionnaire. MDS_A was calculated as a categorical variable using cut-offs (MDS_A), as a continuous variable (zMDS_A) and with energy adjustments (zEnMDS_A). The KIDMED_A score was also calculated. RESULTS: Multilevel linear regression analysis showed positive associations for zMDS_A and KIDMED_A with serum levels of vitamin D, vitamin C, plasma folate, holo-transcobalamin, ß-carotene and n-3 fatty acids, while negative associations were observed with trans-fatty acid serum levels. For categorical indices, blood biomarkers showed few significant results. zMDS_A and KIDMED_A showed positive associations with vegetables and fruits intake, and negative associations with energy-dense and low-nutritious foods. zMDS_A and KIDMED_A were positively associated with all macronutrients, vitamins and minerals (all P < 0·0001), except with monosaccharides and PUFA for KIDMED_A and cholesterol for both indices (P < 0·05). CONCLUSIONS: zMDS_A and KIDMED_A have shown the strongest associations with the dietary indicators and biomarkers that have been associated with the Mediterranean diet before, and are therefore considered the most appropriate and valid Mediterranean diet scores for European adolescents.


Subject(s)
Adolescent Nutritional Physiological Phenomena/physiology , Diet Records , Diet, Mediterranean/statistics & numerical data , Nutrition Assessment , Adolescent , Biomarkers/blood , Child , Cross-Sectional Studies , Female , Folic Acid/blood , Healthy Lifestyle , Humans , Male , Reproducibility of Results , Vitamin D/blood
12.
BMC Pediatr ; 19(1): 90, 2019 04 04.
Article in English | MEDLINE | ID: mdl-30947686

ABSTRACT

BACKGROUND: Physical activity (PA) is associated with changes in body composition that affect insulin sensitivity and leptin levels. Few studies have assessed the effect of lifestyle interventions on changes in objectively measured PA levels in obese children. To evaluate the effects of a multidisciplinary lifestyle intervention on anthropometric indices, biochemical parameters and accelerometer measured PA in abdominal obese children. METHODS: A randomized control trial was performed in 106 children and adolescents with abdominal obesity. Participants were randomly assigned to usual or intensive care group for 8-week. PA was measured by accelerometry over four days including, at least, two weekdays in all participants. Both groups were encouraged to accumulate an extra time of 200 min per week in their PA. RESULTS: At baseline, 75% of subjects do not fulfill the WHO recommendation of being more than 60 min/day on moderate-to-vigorous PA (MVPA). The intensive care group achieved a significant reduction in anthropometric indexes compared to the usual care but no significant change was found in biochemical or PA parameters. Both groups achieved a significant reduction in light PA. Interestingly, intensive care participants significantly increased MVPA in 5.5 min/day. Moreover, an inverse association between changes in MVPA and leptin levels was found. CONCLUSION: The two lifestyle intervention reduced anthropometric indexes and lowered light PA in abdominal obese children. No significant differences were observed between intensive care and usual care in regard to PA. Intensive care participants significantly increase physical activity (MVPA) and, changes in MVPA were inversely associated with changes in leptin levels after the intervention. TRIAL REGISTRATION: ClinicalTrials.gov , Identifier: NCT03147261 . Registered 10 May 2017. Retrospectively registered.


Subject(s)
Exercise , Obesity, Abdominal/therapy , Pediatric Obesity/therapy , Accelerometry , Adolescent , Analysis of Variance , Child , Exercise/physiology , Female , Humans , Leptin/blood , Life Style , Male , Pediatric Obesity/blood , Sleep
13.
Eur J Nutr ; 58(7): 2615-2623, 2019 Oct.
Article in English | MEDLINE | ID: mdl-30121807

ABSTRACT

PURPOSE: To examine the adherence to the Mediterranean dietary pattern (MDP) in metabolically healthy overweight or obese (MHO) and metabolically unhealthy obese (MUO) European adolescents. METHODS: In this cross-sectional study, 137 overweight/obese adolescents aged 12-17 years old from the HELENA study were included. Height, weight, waist circumference and skinfold thickness were measured and body mass index and body fat percent were calculated. Systolic and diastolic blood pressure, glucose, HDL cholesterol, triglycerides and cardiorespiratory fitness (20 m shuttle run test) were measured. MHO and MUO phenotypes were categorized following the Jolliffe and Janssen criteria. Two non-consecutive 24 h recalls were used for dietary intake assessment and the adherence to the MDP was calculated using the Mediterranean dietary pattern score (MDP score) (range 0-9). RESULTS: A total of 45 (22 girls) adolescents (32.8%) were categorized as MHO. The adherence to the MDP was significantly higher in MHO than in MUO adolescents regardless of age, sex, body fat percentage, energy intake and center (MDP score: 4.6 ± 1.6 vs. 3.9 ± 1.5, p = 0.036), but this difference became non-significant after further adjustment for cardiorespiratory fitness. Participants who had a low adherence to the MDP (MDP score ≤ 4) had a higher likelihood of having MUO phenotype regardless of sex, age, energy intake, center and body fat percentage (OR 2.2; 95% CI 1.01-4.81, p = 0.048). CONCLUSIONS: Adherence to the MDP might be beneficial to maintain metabolic health in overweight/obese adolescents, yet cardiorespiratory fitness seems to play a key role on the metabolic phenotype.


Subject(s)
Diet, Mediterranean/statistics & numerical data , Metabolic Syndrome/complications , Nutritional Status , Overweight/complications , Overweight/diet therapy , Patient Compliance/statistics & numerical data , Adolescent , Child , Cross-Sectional Studies , Europe , Female , Humans , Male , Metabolic Syndrome/diet therapy , Obesity/complications , Obesity/diet therapy
14.
Nutr Rev ; 77(1): 1-18, 2019 01 01.
Article in English | MEDLINE | ID: mdl-30376075

ABSTRACT

Context: The numbers of vegans and vegetarians have increased in the last decades. However, the impact of these diets on bone health is still under debate. Objective: This systematic review and meta-analysis sought to study the impact of vegetarian and vegan diets on bone mineral density (BMD) and fracture risk. Data Sources: A systematic search was conducted of PubMed, Scopus, and Science Direct, covering the period from the respective start date of each database to November 2017. Data Extraction: Two investigators evaluated 275 studies against the inclusion criteria (original studies in humans, written in English or Spanish and including vegetarian or vegan diets and omnivorous diets as factors with BMD values for the whole body, lumbar spine, or femoral neck and/or the number of fractures as the outcome) and exclusion criteria (articles that did not include imaging or studies that included participants who had suffered a fracture before starting the vegetarian or vegan diet). The quality assessment tool for observational cohort and cross-sectional studies was used to assess the quality of the studies. Results: Twenty studies including 37 134 participants met the inclusion criteria. Compared with omnivores, vegetarians and vegans had lower BMD at the femoral neck and lumbar spine and vegans also had higher fracture rates. Conclusions: Vegetarian and vegan diets should be planned to avoid negative consequences on bone health. Systematic Review Registration: PROSPERO registration no. CRD42017055508.


Subject(s)
Bone Density , Diet, Vegetarian , Fractures, Bone/epidemiology , Humans , Risk Factors
15.
Public Health Nutr ; 22(3): 419-430, 2019 03.
Article in English | MEDLINE | ID: mdl-30501683

ABSTRACT

OBJECTIVE: To analyse the Nutritional Knowledge Test (NKT) using Item Response Theory (ITR) analysis and to assess the construct validity of the Nutritional Knowledge Scale (NKTS) and its associations with adolescent food group consumption and nutritional biomarkers. DESIGN: Cross-sectional study. SETTING: Multicentre investigation conducted in ten European cities.ParticipantsAdolescents aged 12·5-17·5 years (n 3215) who completed over 75 % of the NKT. RESULTS: Factor analysis indicated that the NKT can be analysed with a one-dimensional model. Eleven out of twenty-three items from the NKT presented adequate parameters and were selected to be included in the NKTS. Nutrition knowledge was positively associated with consumption of fruits, cereals, dairy products, pulses, meat and eggs, and fish, as well as with blood concentrations of vitamin C, ß-carotene, n-3 fatty acids, holo-transcobalamin, cobalamin and folate; nutrition knowledge was negatively associated with intake of olives and avocado, alcohol and savoury snacks. CONCLUSIONS: The NKTS assessed nutritional knowledge adequately and it is proposed as a new tool to investigate this subject in future studies.


Subject(s)
Diet/statistics & numerical data , Health Knowledge, Attitudes, Practice , Nutrition Assessment , Adolescent , Child , Cross-Sectional Studies , Europe/epidemiology , Female , Humans , Male , Nutritional Status , Psychometrics/methods , Psychometrics/standards
16.
An. pediatr. (2003. Ed. impr.) ; 89(5): 315.e1-315.e19, nov. 2018. tab, graf
Article in Spanish | IBECS | ID: ibc-177124

ABSTRACT

Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de «desarrollo sexual diferente» (DSD). Su origen es congénito; se clasifican en función de los cromosomas sexuales presentes en el cariotipo; las causas genéticas conocidas son muy diversas y heterogéneas, aunque algunos casos pueden ser secundarios a factores maternos o medioambientales. Su diagnóstico y tratamiento requieren siempre una atención médica y psicosocial multidisciplinar. El diagnóstico etiológico precisa la interacción entre las exploraciones clínicas, bioquímicas (hormonales), genéticas, de imagen y, eventualmente, quirúrgicas. El tratamiento debe abordar la asignación de género, la posible necesidad de tratamiento hormonal substitutivo (suprarrenal si hay insuficiencia suprarrenal y con esteroides sexuales si hay insuficiencia gonadal a partir de la edad puberal), la necesidad de intervenciones quirúrgicas sobre las estructuras genitales (actualmente se tiende a diferirlas) y/o sobre las gónadas (en función de los riesgos de malignización), la necesidad de apoyo psicosocial y, finalmente, una adecuada programación de la transición a la atención médica en las especialidades de adultos. Las asociaciones de personas afectadas tienen un papel fundamental en el apoyo a familias y la interacción con los medios profesionales y sociales. La utilización de Registros y la colaboración entre profesionales en Grupos de Trabajo de sociedades médicas nacionales e internacionales es fundamental para avanzar en mejorar los medios diagnósticos y terapéuticos que precisan los DSD


Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD


Subject(s)
Humans , Male , Female , Child , Sex Differentiation/genetics , Sexual Development , Social Support , Sex Chromosome Aberrations/classification , Karyotype , Diagnosis, Differential
17.
An Pediatr (Engl Ed) ; 89(5): 315.e1-315.e19, 2018 Nov.
Article in Spanish | MEDLINE | ID: mdl-30033107

ABSTRACT

Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD.


Subject(s)
Disorders of Sex Development/diagnosis , Disorders of Sex Development/therapy , Algorithms , Child , Female , Humans , Male
18.
PM R ; 10(9): 889-897, 2018 09.
Article in English | MEDLINE | ID: mdl-29626614

ABSTRACT

BACKGROUND: Swimming has no effect on bone mass or structure. Therefore, adolescent swimmers present similar bone strength values when compared to normo-active controls, and lower values when compared to weight-bearing athletes. It thus seems necessary to try to improve bone structure and strength of adolescent swimmers through a weight-bearing intervention in order to reduce the risk of suffering osteoporosis later in life. OBJECTIVE: To evaluate the effects of a 6-month whole body vibration (WBV) intervention on bone strength and structure of adolescent swimmers. DESIGN: Randomized controlled trial. SETTING: Research center. PARTICIPANTS: A total of 51 swimmers (14.4 ± 2.0 years) participated in the study. METHODS: Swimmers were randomly allocated into 2 groups: 20 swimmers (9 females) who only performed their swimming training, and 31 swimmers (15 females) who performed their swimming training and received a WBV intervention (3.6-11.6 g) 3 times per week during 6 months (VIB). OUTCOME MEASUREMENTS: Peripheral quantitative computed tomography was performed in the nondominant tibia of all swimmers at 4%, 38%, and 66% of the tibia length before and after the intervention. RESULTS: No differences between groups in any bone structure variable were found at pre- or postintervention. Both groups presented similar improvements in time, and no group by time interactions were found, suggesting that the WBV intervention was not intense enough to achieve positive changes in bone strength or structure. CONCLUSION: WBV, at the chosen intensities and durations, had no effect on adolescent swimmers' bone strength or structure. Future studies should test other weight-bearing interventions aiming to improve bone strength and structure of adolescent swimmers. LEVEL OF EVIDENCE: II.


Subject(s)
Athletes , Osteoporosis/prevention & control , Physical Therapy Modalities , Swimming/physiology , Tibia/diagnostic imaging , Absorptiometry, Photon/methods , Adolescent , Bone Density , Child , Female , Follow-Up Studies , Healthy Volunteers , Humans , Male , Osteoporosis/diagnosis , Retrospective Studies , Tomography, X-Ray Computed , Vibration
19.
Nutr Hosp ; 34(4): 827-833, 2017 Jul 28.
Article in English | MEDLINE | ID: mdl-29095005

ABSTRACT

INTRODUCTION: There are increasing concerns about the types of foods and beverages consumed by children during mid-afternoon snack in Spain. AIM: To describe the frequency and quality of the mid-afternoon snack in a representative sample of Spanish children. METHODS: A total of 1,233 younger (three to six years) and 1,618 older (seven to twelve years) children participated in the study. The report of food and beverages consumed per week during the mid-afternoon snack meal (merienda)was obtained by an online platform. RESULTS: An 84.4% of younger and 78.3% of older children were mid-afternoon snack consumers. Regular consumers were more likely to be from the South and the Centre regions. Sandwich was the most consumed food item among younger (49.5%) and older (59.7%) consumers; 46.5% of mid-afternoon snacks contained two food items among younger children, and 50.1% of mid-afternoon snacks contained one food item among older children. "Fruit", "milk and biscuits", and "fruit, biscuits and juices" were the most consumed combinations when considering one, two and three or more food items during one-time mid-afternoon occasion, respectively. CONCLUSIONS: The frequency of mid-afternoon snack occasions and the number and quality of food items consumed during one-time mid-afternoon snack occasion decrease with age. Spanish children should increase the frequency of mid-afternoon snack consumption and include healthy options in their menus. Longitudinal and intervention studies are needed to address the health impact of snacking and how to use this meal occasion to balance children's diets.


Subject(s)
Snacks , Adolescent , Age Factors , Child , Child Nutritional Physiological Phenomena , Child, Preschool , Diet , Energy Intake , Female , Humans , Male , Nutritive Value , Spain
20.
Nutr. hosp ; 34(4): 827-833, jul.-ago. 2017. graf, tab
Article in English | IBECS | ID: ibc-165343

ABSTRACT

Introduction: There are increasing concerns about the types of foods and beverages consumed by children during mid-afternoon snack in Spain. Aim: To describe the frequency and quality of the mid-afternoon snack in a representative sample of Spanish children. Methods: A total of 1,233 younger (three to six years) and 1,618 older (seven to twelve years) children participated in the study. The report of food and beverages consumed per week during the mid-afternoon snack meal (merienda) was obtained by an online platform. Results: An 84.4% of younger and 78.3% of older children were mid-afternoon snack consumers. Regular consumers were more likely to be from the South and the Centre regions. Sandwich was the most consumed food item among younger (49.5%) and older (59.7%) consumers; 46.5% of mid-afternoon snacks contained two food items among younger children, and 50.1% of mid-afternoon snacks contained one food item among older children. «Fruit», «milk and biscuits», and «fruit, biscuits and juices» were the most consumed combinations when considering one, two and three or more food items during one-time mid-afternoon occasion, respectively. Conclusions: The frequency of mid-afternoon snack occasions and the number and quality of food items consumed during one-time mid-afternoon snack occasion decrease with age. Spanish children should increase the frequency of mid-afternoon snack consumption and include healthy options in their menus. Longitudinal and intervention studies are needed to address the health impact of snacking and how to use this meal occasion to balance children’s diets (AU)


Introducción: hay cada vez más preocupación acerca del tipo de alimentos y bebidas consumidos durante la merienda por los niños españoles. Objetivo: describir la frecuencia y la calidad de la merienda en una muestra representativa de niños españoles. Métodos: un total de 1.233 niños jóvenes (de tres a seis años) y 1.618 mayores (de siete a doce años) participaron en el estudio. Los alimentos y bebidas consumidos por semana durante la merienda se obtuvieron mediante una plataforma en línea. Resultados: el 84,4% de los niños pequeños y el 78,3% de los niños mayores eran consumidores de merienda. Los consumidores regulares eran, con mayor probabilidad, del sur y de las regiones del centro. El bocadillo fue el alimento más consumido entre los consumidores pequeños (49,5%) y mayores (59,7%). El 46,5% de las meriendas entre los pequeños contenían dos alimentos y el 50,1% de las meriendas entre los mayores contenían únicamente un alimento. «Frutas», «leche y galletas» y «frutas, galletas y zumos» fueron las combinaciones más consumidas al considerar uno, dos y tres o más alimentos durante una sola ocasión de merienda, respectivamente. Conclusiones: la frecuencia de las ocasiones de merienda, así como el número y la calidad de los alimentos consumidos disminuyen con la edad. Los niños españoles deberían aumentar la frecuencia de consumo de la merienda e incluir opciones saludables en sus menús. Se necesitan estudios longitudinales y de intervención para abordar el impacto en la salud de la merienda y cómo usar esta ocasión de comida para equilibrar las dietas de los niños (AU)


Subject(s)
Humans , Male , Female , Child , 24457 , Beverages , Snacks , Drinking/physiology , Feeding Behavior/physiology , Social Class , 24436 , Nutrients/methods
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