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1.
Genes (Basel) ; 15(4)2024 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-38674416

RESUMO

The pathophysiology of gestational diabetes mellitus (GDM) comprises clinical and genetic factors. In fact, GDM is associated with several single nucleotide polymorphisms (SNPs). This study aimed to build a prediction model of GDM combining clinical and genetic risk factors. A total of 1588 pregnant women from the San Carlos Cohort participated in the present study, including 1069 (67.3%) Caucasian (CAU) and 519 (32.7%) Latin American (LAT) individuals, and 255 (16.1%) had GDM. The incidence of GDM was similar in both groups (16.1% CAU and 16.0% LAT). Genotyping was performed via IPLEX Mass ARRAY PCR, selecting 110 SNPs based on literature references. SNPs showing the strongest likelihood of developing GDM were rs10830963, rs7651090, and rs1371614 in CAU and rs1387153 and rs9368222 in LAT. Clinical variables, including age, pre-pregnancy body mass index, and fasting plasma glucose (FPG) at 12 gestational weeks, predicted the risk of GDM (AUC 0.648, 95% CI 0.601-0.695 in CAU; AUC 0.688, 95% CI 0.628-9.748 in LAT), and adding SNPs modestly improved prediction (AUC 0.722, 95%CI 0.680-0.764 in CAU; AUC 0.769, 95% CI 0.711-0.826 in LAT). In conclusion, adding genetic variants enhanced the prediction model of GDM risk in CAU and LAT pregnant women.


Assuntos
Diabetes Gestacional , Polimorfismo de Nucleotídeo Único , População Branca , Humanos , Diabetes Gestacional/genética , Diabetes Gestacional/epidemiologia , Feminino , Gravidez , População Branca/genética , Adulto , Fatores de Risco , América Latina/epidemiologia , Predisposição Genética para Doença , Glicemia , Índice de Massa Corporal
2.
Front Endocrinol (Lausanne) ; 14: 1227059, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37560297

RESUMO

Introduction: Admission hyponatremia, frequent in patients hospitalized for COVID-19, has been associated with increased mortality. However, although euvolemic hyponatremia secondary to the Syndrome of Inappropriate Antidiuresis (SIAD) is the single most common cause of hyponatremia in community-acquired pneumonia (CAP), a thorough and rigorous assessment of the volemia of hyponatremic COVID-19 subjects has yet to be described. We sought to identify factors contributing to mortality and hospital length-of-stay (LOS) in hospitalized COVID-19 patients admitted with hyponatremia, taking volemia into account. Method: Retrospective study of 247 patients admitted with COVID-19 to a tertiary hospital in Madrid, Spain from March 1st through March 30th, 2020, with a glycemia-corrected serum sodium level (SNa) < 135 mmol/L. Variables were collected at admission, at 2nd-3rd day of hospitalization, and ensuing days when hyponatremia persisted. Admission volemia (based on both physical and analytical parameters), therapy, and its adequacy as a function of volemia, were determined. Results: Age: 68 years [56-81]; 39.9% were female. Median admission SNa was 133 mmol/L [131- 134]. Hyponatremia was mild (SNa 131-134 mmol/L) in 188/247 (76%). Volemia was available in 208/247 patients; 57.2% were euvolemic and the rest (42.8%) hypovolemic. Hyponatremia was left untreated in 154/247 (62.3%) patients. Admission therapy was not concordant with volemia in 43/84 (51.2%). In fact, the majority of treated euvolemic patients received incorrect therapy with isotonic saline (37/41, 90.2%), whereas hypovolemics did not (p=0.001). The latter showed higher mortality rates than those receiving adequate or no therapy (36.7% vs. 19% respectively, p=0.023). The administration of isotonic saline to euvolemic hyponatremic subjects was independently associated with an elevation of in-hospital mortality (Odds Ratio: 3.877, 95%; Confidence Interval: 1.25-12.03). Conclusion: Hyponatremia in COVID-19 is predominantly euvolemic. Isotonic saline infusion therapy in euvolemic hyponatremic COVID-19 patients can lead to an increased mortality rate. Thus, an exhaustive and precise volemic assessment of the hyponatremic patient with CAP, particularly when due to COVID-19, is mandatory before instauration of therapy, even when hyponatremia is mild.


Assuntos
COVID-19 , Hiponatremia , Síndrome de Secreção Inadequada de HAD , Pneumonia , Humanos , Feminino , Idoso , Masculino , Hiponatremia/etiologia , Hiponatremia/terapia , Síndrome de Secreção Inadequada de HAD/complicações , Síndrome de Secreção Inadequada de HAD/terapia , Estudos Retrospectivos , COVID-19/complicações , SARS-CoV-2 , Pneumonia/complicações
5.
Endocrinol. diabetes nutr. (Ed. impr.) ; 67(9): 562-567, nov. 2020.
Artigo em Espanhol | IBECS | ID: ibc-197337

RESUMO

INTRODUCCIÓN: La demanda de atención sanitaria a personas transexuales o con incongruencia de género ha aumentado en los últimos años, sobre todo a expensas de jóvenes y adolescentes. También en paralelo ha aumentado el número de personas que refieren una pérdida o modificación en el sentimiento de género inicialmente expresado. Aunque siguen siendo minoría, nos enfrentamos cada vez más a casos complejos de personas transexuales que solicitan detransicionar y revertir los cambios conseguidos por arrepentimientos. OBJETIVO: Relatar nuestra experiencia con un grupo de personas transexuales en fase de detransición. Analizar su experiencia personal y los conflictos generados y reflexionar sobre estos procesos nunca antes descritos en España. MATERIAL Y MÉTODOS: Cohorte de 796 personas con incongruencia de género atendidas desde enero de 2008 hasta diciembre de 2018 en la Unidad de Identidad de Género del departamento Valencia Doctor Peset. De los 8 casos documentados de detransición y/o desistencia se relatan los 4 más representativos y que consideramos más ilustrativos de esta realidad. RESULTADOS: Las causas observadas que motivaron su detransición fueron la desistencia identitaria, las variantes de género no binarias, la psicomorbilidad asociada y la confusión entre identidad y orientación sexual. CONCLUSIÓN: La detransición es un fenómeno de presentación creciente que conlleva problemas clínicos, psicológicos y sociales. Una incorrecta evaluación y recurrir a la medicalización como única vía de mejora de la disforia en algunos jóvenes puede conducir a posteriores detransiciones. Es fundamental una atención integral dentro de un equipo multidisciplinar con experiencia. A falta de más estudios que determinen posibles factores predictivos de detransición, es recomendable proceder con prudencia en casos de historias identitarias atípicas


INTRODUCTION: Health care demand by transsexual people has recently increased, mostly at the expense of young and adolescents. The number of people who report a loss of or change in the former identity feeling (identity desistance) has also increased. While these are still a minority, we face more and more cases of transsexual people who ask for detransition and reversal of the changes achieved due to regret. OBJECTIVE: To report our experience with a group of transsexual people in detransition phase, and to analyze their personal experience and their associated conflicts. MATERIAL AND METHODS: A cohort of 796 people with gender incongruence attending the Identity Gender Unit of Doctor Peset University Hospital from January 2008 to December 2018 was studied. Four of the eight documented cases of detransition and/or regret are reported as the most representative. RESULTS: Causes of detransition included identity desistance, non-binary gender variants, associated psicomorbidities, and confusion between sexual identity and sexual orientation. CONCLUSION: Detransition is a growing phenomenon that implies clinical, psychological, and social issues. Inadequate evaluation and use of medicalization as the only means to improve gender dysphoria may lead to later detransition in some teenagers. Comprehensive care by a multidisciplinary and experienced team is essential. As there are no studies reporting the factors predictive of detransition, caution is recommended in cases of atypical identity courses


Assuntos
Humanos , Adolescente , Adulto Jovem , Adulto , Transexualidade/diagnóstico , Homossexualidade Masculina/psicologia , Homossexualidade Feminina/psicologia , Estudos de Coortes , Identidade de Gênero , Acessibilidade aos Serviços de Saúde , Bissexualidade , Espanha , Comportamento Sexual , Desenvolvimento Psicossexual , Transexualidade/psicologia
6.
Endocrinol Diabetes Nutr (Engl Ed) ; 67(9): 562-567, 2020 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32591293

RESUMO

INTRODUCTION: Health care demand by transsexual people has recently increased, mostly at the expense of young and adolescents. The number of people who report a loss of or change in the former identity feeling (identity desistance) has also increased. While these are still a minority, we face more and more cases of transsexual people who ask for detransition and reversal of the changes achieved due to regret. OBJECTIVE: To report our experience with a group of transsexual people in detransition phase, and to analyze their personal experience and their associated conflicts. MATERIAL AND METHODS: A cohort of 796 people with gender incongruence attending the Identity Gender Unit of Doctor Peset University Hospital from January 2008 to December 2018 was studied. Four of the eight documented cases of detransition and/or regret are reported as the most representative. RESULTS: Causes of detransition included identity desistance, non-binary gender variants, associated psicomorbidities, and confusion between sexual identity and sexual orientation. CONCLUSION: Detransition is a growing phenomenon that implies clinical, psychological, and social issues. Inadequate evaluation and use of medicalization as the only means to improve gender dysphoria may lead to later detransition in some teenagers. Comprehensive care by a multidisciplinary and experienced team is essential. As there are no studies reporting the factors predictive of detransition, caution is recommended in cases of atypical identity courses.


Assuntos
Emoções , Disforia de Gênero , Pessoas Transgênero , Adolescente , Feminino , Identidade de Gênero , Humanos , Masculino , Espanha , Pessoas Transgênero/psicologia
7.
Endocrinol. diabetes nutr. (Ed. impr.) ; 67(3): 164-171, mar. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-188144

RESUMO

Objetivo: Valorar la eficacia y la seguridad de una sesión única de ablación por radiofrecuencia (ARF) en pacientes con nódulos tiroideos benignos y de predominio sólido. Pacientes y método: Estudio unicéntrico retrospectivo de práctica clínica habitual en el que se incluyeron pacientes con nódulos tiroideos sólidos benignos sometidos a una sesión única de ARF con seguimiento de al menos 6 meses tras procedimiento, indicada como alternativa a la cirugía por presentar clínica local compresiva y/o evidencia de crecimiento nodular. Los pacientes fueron evaluados antes, al mes, 3 meses y 6 meses de la ARF, así como a los 12 meses en aquellos con seguimiento disponible. En cada evaluación se recogieron variables de eficacia (cambio porcentual del volumen nodular, el porcentaje de nódulos con reducción volumétrica mayor del 50% respecto al volumen inicial, la desaparición de los síntomas de compresión y la posibilidad de retirar la medicación antitiroidea en aquellos casos bajo tratamiento) y variables de seguridad, incluyendo complicaciones menores (dolor que precisó de analgesia convencional, hematoma peritiroideo de reabsorción espontánea) y complicaciones mayores (cambios en la voz, daños en el plexo cervical, ruptura nodular, disfunción tiroidea). Resultados: Se describen los resultados en 24 pacientes con seguimiento de hasta 12 meses en 16 de ellos. El volumen nodular medio pasó de 25,4 ± 15,5 ml antes de la ARF a 10,7 ± 9,9 ml a los 6 meses (p < 0,05) y a 9,9 ± 10,4 ml a los 12 meses (en 16 casos evaluados), resultando la reducción porcentual de volumen significativa desde el mes siguiente al procedimiento. A los 6 meses la reducción media alcanzada fue del 57,5 ± 24% y el 65% de los nódulos presentaban una reducción de volumen mayor del 50%. En aquellos nódulos con un volumen inicial mayor de 20ml (n = 13) la reducción porcentual a los 6 meses fue del 50,4 ± 25,8% frente al 65,3 ± 20,1% en los nódulos de menor volumen inicial (n = 11). La sintomatología compresiva desapareció desde el primer mes en los 12 pacientes que la referían. La medicación antitiroidea pautada antes de la ARF en 4 casos pudo ser retirada en 3. En 9 pacientes se registró la presencia de dolor leve transitorio en las primeras 24 h, que respondió a analgésicos convencionales, y en 7 se objetivó un pequeño hematoma peritiroideo de reabsorción espontánea en la ecografía de control a las 24 a 48 h de la ablación. Al mes de la ARF se observó un caso de rotura nodular, que se resolvió de manera espontánea. No se apreciaron cambios en los valores hormonales en los pacientes eutiroideos. Conclusión: Una sesión única de ARF parece un tratamiento eficaz y seguro en pacientes portadores de nódulos tiroideos benignos sólidos y con clínica compresiva y/o evidencia de crecimiento nodular relevante. Al ser un procedimiento ambulatorio que no precisa anestesia general ni incisión cutánea podría convertirse en una alternativa útil a la cirugía en los casos en que esta sea rechazada o se considere de alto riesgo


Objective: To evaluate the efficacy and safety of one single-session of radiofrequency ablation (RFA) performed in thyroid benign and predominantly solid nodules. Patients and method: Unicentric retrospective study in usual clinical setting that included patients with solid and benign thyroid nodules treated with one single session of RFA and with folllow-up of at at least 6 months after the procedure. RFA was performed as an alternative to surgery in cases of pressure symptoms or nodular growth evidence. Patients were evaluated basally and at one, 3 and 6 months after RFA and also at 12 months if the follow-up was available. In each evaluation efficacy variables were recorded (percentual change from basal volume, percentage of nodules reaching a volume reduction above 50% from baseline, patients with disappearance of pressure symptoms and the possibility of antithyroid drug withdrawal) and safety variables were also registered including minor complications (pain needing analgesic drugs, hematoma) and major complications (voice changes, braquial plexus injury, nodule rupture and thyroid dysfunction). Results: Twenty-four patients with a follow-up of at least 6 months after RFA were included, 16 of them with more than 12 months of follow-up. Mean nodule volume changed from 25.4 ± 15.5 ml basally to 10.7 ± 9.9 ml at month 6 (P < .05) and to 9.9 ± 10,4 ml at month 12 in 16 nodules. Six months after RFA mean volumetric reduction was 57.5 ± 24% and 65% of the nodules reached a volume reduction above 50% from baseline. Median percentage of reduction at month 6 was 50.4 ± 25.8% for nodules with a basal volume above 20 ml (n = 13) and 65.3 ± 20.1% for nodules with a lower basal volume (n = 11). Pressure symptoms reported in 12 patients disappeared in all cases. Antithyroid drugs could be stopped in 3 of 4 cases treated before RFA. A mild and transient pain responsive to conventional analgesic drugs was recorded in 9 patients during the 24 h after the procedure and in 7 a small perithyroid and transient hematoma was observed in the 48 following hours. One major complication was described as a nodule rupture that recovered spontaneously. There were no changes in hormonal values in euthyroid cases. Conclusion: A single session of RFA seems to be an effective and safe procedure in patients with solid thyroid nodules with pressure symptoms or relevant growth evidence. As an outpatient and scarless procedure with no need of general anaesthesia it could become an useful alternative to lobectomy when surgery is refused or in patients at high surgical risk


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Ablação por Radiofrequência/métodos , Resultado do Tratamento , Nódulo da Glândula Tireoide/terapia , Ablação por Radiofrequência/estatística & dados numéricos , Estudos Retrospectivos , Hematoma/complicações , Antitireóideos/uso terapêutico , Síndromes do Eutireóideo Doente/complicações
8.
Endocrinol Diabetes Nutr (Engl Ed) ; 67(3): 164-171, 2020 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31439500

RESUMO

OBJECTIVE: To evaluate the efficacy and safety of one single-session of radiofrequency ablation (RFA) performed in thyroid benign and predominantly solid nodules. PATIENTS AND METHOD: Unicentric retrospective study in usual clinical setting that included patients with solid and benign thyroid nodules treated with one single session of RFA and with folllow-up of at at least 6 months after the procedure. RFA was performed as an alternative to surgery in cases of pressure symptoms or nodular growth evidence. Patients were evaluated basally and at one, 3 and 6 months after RFA and also at 12 months if the follow-up was available. In each evaluation efficacy variables were recorded (percentual change from basal volume, percentage of nodules reaching a volume reduction above 50% from baseline, patients with disappearance of pressure symptoms and the possibility of antithyroid drug withdrawal) and safety variables were also registered including minor complications (pain needing analgesic drugs, hematoma) and major complications (voice changes, braquial plexus injury, nodule rupture and thyroid dysfunction). RESULTS: Twenty-four patients with a follow-up of at least 6 months after RFA were included, 16 of them with more than 12 months of follow-up. Mean nodule volume changed from 25.4±15.5ml basally to 10.7±9.9ml at month 6 (P<.05) and to 9.9±10,4ml at month 12 in 16 nodules. Six months after RFA mean volumetric reduction was 57.5±24% and 65% of the nodules reached a volume reduction above 50% from baseline. Median percentage of reduction at month 6 was 50.4±25.8% for nodules with a basal volume above 20ml (n=13) and 65.3±20.1% for nodules with a lower basal volume (n=11). Pressure symptoms reported in 12 patients disappeared in all cases. Antithyroid drugs could be stopped in 3 of 4 cases treated before RFA. A mild and transient pain responsive to conventional analgesic drugs was recorded in 9 patients during the 24h after the procedure and in 7 a small perithyroid and transient hematoma was observed in the 48 following hours. One major complication was described as a nodule rupture that recovered spontaneously. There were no changes in hormonal values in euthyroid cases. CONCLUSION: A single session of RFA seems to be an effective and safe procedure in patients with solid thyroid nodules with pressure symptoms or relevant growth evidence. As an outpatient and scarless procedure with no need of general anaesthesia it could become an useful alternative to lobectomy when surgery is refused or in patients at high surgical risk.


Assuntos
Ablação por Radiofrequência , Nódulo da Glândula Tireoide/cirurgia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
9.
Int J Chron Obstruct Pulmon Dis ; 12: 1033-1038, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28408813

RESUMO

INTRODUCTION: Many patients with COPD are underdiagnosed, including patients with coexisting lung cancer. METHODS: We conducted a retrospective study of COPD prevalence and outcomes among all patients diagnosed with lung cancer at our institution during a 2-year period. Patients with known COPD (group A) were compared with those who received a diagnosis of COPD at the time of their oncologic workup (group B). RESULTS: A total of 306 patients were diagnosed with lung cancer during the study period, including 87 with COPD (28.6%). Sixty percent of patients with coexisting lung cancer and COPD were unaware of their obstructive airways disease prior to the lung cancer diagnosis. Patients in group A were older (74+9 vs 69+9 years; P=0.03), had more severe obstruction (% of predicted forced expiratory volume in one second [FEV1%] 55+17 vs 71+13; P=0.04), more emphysema (91% vs 65%; P=0.02), and worse diffusing capacity of the lungs for carbon monoxide 59+19% vs 72+22%; P=0.01) than patients in group B, but the latter had more advanced lung cancer (27.3% vs 13.8% stage IV disease; P=0.01) and consumed more outpatient resources (P=0.03). Overall mortality was similar (56% vs 58%). However, stage-adjusted mortality showed a trend toward greater mortality in group B patients (1.87 [0.91-3.85]; P=0.087). CONCLUSION: COPD infradiagnosis is common in patients with coexisting lung cancer and is associated with more advanced cancer stage, greater outpatient resource consumption, and may be associated with greater stage-adjusted mortality.


Assuntos
Detecção Precoce de Câncer/métodos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Pulmão/fisiopatologia , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Recursos em Saúde/estatística & dados numéricos , Humanos , Estimativa de Kaplan-Meier , Pulmão/patologia , Neoplasias Pulmonares/mortalidade , Neoplasias Pulmonares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Prevalência , Modelos de Riscos Proporcionais , Doença Pulmonar Obstrutiva Crônica/mortalidade , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Testes de Função Respiratória , Estudos Retrospectivos , Fatores de Risco , Espanha/epidemiologia
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