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1.
J Neurol ; 271(1): 486-496, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37773417

RESUMEN

CONTEXT: Treatment with Alemtuzumab (ALZ) in patients with Relapsing-Remitting Multiple Sclerosis (RRMS) is associated with the development of ALZ-induced Graves' disease (GD-ALZ). Some cases may develop associated Graves´ Orbitopathy (GO-ALZ), with possible visual compromise. AIM: The aim of this study was to describe the main clinical and biochemical characteristics of GD-ALZ, as well as the clinical course of a case series of GO-ALZ METHODS: This study is a retrospective observational study, carried out in a reference hospital for the care of patients with RRMS in Spain. Cases treated with ALZ in the period 2014-2022 were included. GO-ALZ cases were identified among those with clinical symptoms compatible with thyroid eye disease after initiating ALZ treatment. RESULTS: A total of 135 cases, with a mean follow-up of 69.6 months after the first ALZ cycle, were included. The incidence of GD-ALZ was 32.6% (44/135), with a predominance of women (77.3%) and mean age of 41.9 years. The presence of first-degree relatives with hypothyroidism was identified as risk factor for the development of GD-ALZ (adjusted P-value: 0.02). GO-ALZ was diagnosed in 6 cases (incidence: 13.6%), of which 3 had severe clinical forms of GO, requiring anti-IL-6 treatment. A favorable response was reported in all of them, with a significant decrease in disease activity and improvement in proptosis. CONCLUSIONS: We report one of the largest cohorts of GD-ALZ and GO-ALZ cases. The diagnosis of these entities should be taken into account in patients treated with Alemtuzumab, given the risk of developing severe clinical forms. In moderate-severe forms of GO-ALZ, drugs with anti-IL-6 activity are a safe and effective option.


Asunto(s)
Enfermedad de Graves , Oftalmopatía de Graves , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Femenino , Adulto , Masculino , Alemtuzumab/efectos adversos , Oftalmopatía de Graves/tratamiento farmacológico , Oftalmopatía de Graves/inducido químicamente , Oftalmopatía de Graves/epidemiología , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Esclerosis Múltiple/complicaciones , Enfermedad de Graves/complicaciones , Enfermedad de Graves/diagnóstico , Enfermedad de Graves/epidemiología
2.
J Clin Endocrinol Metab ; 109(1): e379-e388, 2023 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-37428898

RESUMEN

CONTEXT: Patients with obesity have an overactivated renin-angiotensin-aldosterone system (RAAS) that is associated with essential hypertension. However, the influence of obesity in primary aldosteronism (PA) is unknown. OBJECTIVE: We analyzed the effect of obesity on the characteristics of PA, and the association between obesity and RAAS components. METHODS: A retrospective study was conducted of the Spanish PA Registry (SPAIN-ALDO Registry), which included patients with PA seen at 20 tertiary centers between 2018 and 2022. Differences between patients with and without obesity were analyzed. RESULTS: A total of 415 patients were included; 189 (45.5%) with obesity. Median age was 55 years (range, 47.3-65.2 years) and 240 (58.4%) were male. Compared to those without obesity, patients with obesity had higher rates of diabetes mellitus, chronic kidney disease, obstructive apnea syndrome, left ventricular hypertrophy, prior cardiovascular events, higher means of systolic blood pressure, and required more antihypertensive drugs. Patients with PA and obesity also had higher values of serum glucose, glycated hemoglobin A1c, creatinine, uric acid, and triglycerides, and lower levels of high-density lipoprotein cholesterol. Levels of blood aldosterone (PAC) and renin were similar between patients with and without obesity. Body mass index was not correlated with PAC nor renin. The rates of adrenal lesions on imaging studies, as well as the rates of unilateral disease assessed by adrenal vein sampling or I-6ß-iodomethyl-19-norcholesterol scintigraphy, were similar between groups. CONCLUSION: Obesity in PA patients involves a worse cardiometabolic profile, and need for more antihypertensive drugs but similar PAC and renin levels, and rates of adrenal lesions and lateral disease than patients without obesity. However, obesity implicates a lower rate of hypertension cure after adrenalectomy.


Asunto(s)
Hiperaldosteronismo , Hipertensión , Humanos , Masculino , Persona de Mediana Edad , Femenino , Hiperaldosteronismo/complicaciones , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/epidemiología , Antihipertensivos/uso terapéutico , Aldosterona , Renina , Estudios Retrospectivos , Hipertensión/tratamiento farmacológico , Adrenalectomía , Obesidad/complicaciones , Obesidad/epidemiología , Obesidad/tratamiento farmacológico
3.
J Clin Lipidol ; 16(5): 601-607, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35918255

RESUMEN

Hereditary familial hypobetalipoproteinemia (FHBL) is a syndrome caused by variants in the APOB gene, that cause a defect in the secretion and mobilization of liver lipids to peripheral tissues, associated with the synthesis of truncated ApoB100 apolipoproteins. This condition causes significant reduction in total cholesterol (TC), low-density lipoproteins (LDL), very low-density proteins (VLDL) and serum triglyceride levels, with unchanged high-density lipoprotein (HDL) cholesterol levels. Herein we present the case of a middle-aged woman diagnosed with FHBL and hepatic steatosis, heterozygous for c.4698C>A; (p.Tyr1566Ter) variant in APOB. The variant presented herein showed high expressiveness in the two generations of individuals analyzed and has not yet being described in the medical literature. Early diagnosis and screening for associated metabolic comorbidities such as metabolic fatty liver disease and its subsequent progression to fibrosis are the two main goals in the treatment of this condition, in order to prevent medium to long term potential complications.


Asunto(s)
Hipobetalipoproteinemia Familiar por Apolipoproteína B , Hipobetalipoproteinemias , Persona de Mediana Edad , Femenino , Humanos , Apolipoproteínas B , Hipobetalipoproteinemia Familiar por Apolipoproteína B/genética , Hipobetalipoproteinemias/genética , Colesterol
4.
Endocrine ; 76(3): 687-696, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35275344

RESUMEN

OBJECTIVE: To analyze the evolution of the cardiometabolic profile of patients with primary hyperaldosteronism (PA) after the treatment with surgery and with mineralocorticoid receptor antagonists (MRA). DESIGN: Retrospective multicentric study of patients with PA on follow-up in twelve Spanish centers between 2018 and 2020. RESULTS: 268 patients with PA treated by surgery (n = 100) or with MRA (n = 168) were included. At baseline, patients treated with surgery were more commonly women (54.6% vs 41.7%, P = 0.042), had a higher prevalence of hypokalemia (72.2% vs 58%, P = 0.022) and lower prevalence of obesity (37.4% vs 51.3%, P = 0.034) than patients treated with MRA. Adrenalectomy resulted in complete biochemical cure in 94.0% and clinical response in 83.0% (complete response in 41.0% and partial response in 42.0%). After a median follow-up of 23.6 (IQR 9.7-53.8) months, the reduction in blood pressure (BP) after treatment was similar between the group of surgery and MRA, but patients surgically treated reduced the number of antihypertensive pills for BP control more than those medically treated (∆antihypertensives: -1.3 ± 1.3 vs 0.0 ± 1.4, P < 0.0001) and experienced a higher increased in serum potassium levels (∆serum potassium: 0.9 ± 0.7 vs 0.6 ± 0.8mEq/ml, P = 0.003). However, no differences in the risk of the onset of new renal and cardiometabolic comorbidities was observed between the group of surgery and MRA (HR = 0.9 [0.5-1.5], P = 0.659). CONCLUSION: In patients with PA, MRA and surgery offer a similar short-term cardiovascular protection, but surgery improves biochemical control and reduces pill burden more commonly than MRA, and lead to hypertension cure or improvement in up to 83% of the patients.


Asunto(s)
Hiperaldosteronismo , Hipertensión , Adrenalectomía/efectos adversos , Femenino , Humanos , Hiperaldosteronismo/tratamiento farmacológico , Hiperaldosteronismo/epidemiología , Hiperaldosteronismo/cirugía , Hipertensión/tratamiento farmacológico , Hipertensión/epidemiología , Antagonistas de Receptores de Mineralocorticoides/uso terapéutico , Potasio/uso terapéutico , Sistema de Registros , Estudios Retrospectivos , España/epidemiología
5.
J Hypertens ; 40(12): 2486-2493, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36018220

RESUMEN

PURPOSE: To develop a predictive model of hypertension resolution after adrenalectomy in patients with primary aldosteronism (PA), based on their presurgical characteristics. METHODS: A retrospective multicenter study of PA patients in follow-up in 20 Spanish tertiary hospitals between 2018 and 2021 was performed (SPAIN-ALDO Register). Clinical response postadrenalectomy was classified according to the primary aldosteronism surgical outcome (PASO) consensus criteria. The predictive model was developed using a multivariate logistic regression model with the estimation of all possible equations. RESULTS: A total of 146 patients (54.8% females; mean age of 51.5 ± 10.9 years) with PA who underwent unilateral adrenalectomy were included. After a mean follow-up of 29.1 ±â€Š30.43 months after surgery, hypertension cure was obtained in 37.7% ( n  = 55) of the patients. The predictive model with the highest diagnostic accuracy to predict hypertension cure combined the variables female sex, use of two or fewer antihypertensive medications, hypertension grade 1, without type 2 diabetes and nonobesity. The area under the receiver operating characteristic curve of this model was 0.841 [0.769-0.914]. Based on this model, the group of patients with a higher probability of cure (80.4%) were those without type 2 diabetes, BMI <30 kg/m 2 , female sex, hypertension grade 1 and who use two or fewer antihypertensives. Our predictive model offered a slightly higher diagnostic accuracy than Wachtel's (area under the curve [AUC]: 0.809), Utsumi's (AUC: 0.804) and Zarnegar's (AUC: 0.796) models and was similar than the Burello's (AUC: 0.833) model. CONCLUSION: Female sex, use of two or fewer antihypertensive medications, hypertension grade 1, no type 2 diabetes and nonobesity may predict hypertension cure after adrenalectomy in patients with PA. Our score provides a potential tool to guide preoperative patient counseling.


Asunto(s)
Diabetes Mellitus Tipo 2 , Hiperaldosteronismo , Hipertensión , Humanos , Femenino , Adulto , Persona de Mediana Edad , Masculino , Adrenalectomía , Antihipertensivos/uso terapéutico , España , Resultado del Tratamiento , Hipertensión/tratamiento farmacológico , Estudios Retrospectivos , Diabetes Mellitus Tipo 2/tratamiento farmacológico
6.
Endocrine ; 78(2): 363-372, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35751774

RESUMEN

OBJECTIVE: The aim of this study was to evaluate the rate of adrenal venous sampling (AVS) performance in patients with primary aldosteronism (PA), the main reasons for its non-performance, and the success and complications rate of this procedure in Spain. Moreover, the concordance between CT/MRI and AVS for PA subtyping was evaluated. METHODS: A retrospective multicenter study of PA patient follow-up in 20 Spanish tertiary hospitals between 2018-2021 was performed (SPAIN-ALDO Register). RESULTS: Of the 440 patients with PA included in the study, 153 underwent AVS (34.8%). The main reasons for not performing AVS were: patient rejection to the procedure, low catheterization rate in the center and unilateral disease based on CT/MRI. The overall success rate was 44.4% (the left adrenal vein was properly canulated in 77.8% and the right adrenal vein in 48.4%). Only 3 patients experienced minor complications. In the 45 patients with unilateral disease according to AVS, CT/MRI indicated bilateral disease or normal adrenal glands in 17. In the 23 patients with bilateral disease, CT/MRI indicated unilateral disease in 14. However, no significant differences were observed in biochemical response (P = 0.051) and hypertension resolution (P = 0.150) between patients who underwent surgery based on CT/MRI results and those who underwent surgery based on AVS results. CONCLUSION: In our setting, AVS is still an underused technique in patients with PA. The low experience and success rate in AVS partially justify these results. More training for providers and patients needs to be done to include appropriate well performed AVS in the diagnosis algorithm of PA.


Asunto(s)
Hiperaldosteronismo , Humanos , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/cirugía , España , Glándulas Suprarrenales/diagnóstico por imagen , Glándulas Suprarrenales/irrigación sanguínea , Imagen por Resonancia Magnética , Estudios Retrospectivos , Aldosterona , Adrenalectomía
7.
Ann Allergy Asthma Immunol ; 88(5): 518-22, 2002 May.
Artículo en Inglés | MEDLINE | ID: mdl-12027075

RESUMEN

BACKGROUND: Aniseed is a spice frequently used in Mediterranean cooking and, as with other Umbelliferae, it has been involved in clinical allergy. OBJECTIVE: This investigation was undertaken to study the allergens implicated in a case of occupational allergy to aniseed associated with rhinoconjunctivitis and gastrointestinal symptoms. METHODS: Skin prick tests were performed to inhalant allergens, spices used in the patient's workplace (aniseed and cinnamon), and 12 other Umbelliferae spices, birch, and mugwort. A nasal challenge test to aniseed and cinnamon and a double-blind placebo-controlled oral food challenge test to aniseed were also performed. The molecular weights of the allergens were studied by sodium dodecyl sulfate-polyacrylamide gel electrophoresis immunoblotting and cross-reactivity among Umbelliferae species by enzyme immunoassay inhibition. RESULTS: Skin prick tests showed a positive immediate response to aniseed, asparagus, caraway, coriander, cumin, dill, and fennel extracts, and an intense late response to aniseed. Skin prick tests to celery, carrot, birch pollen, and mugwort pollen extracts were negative. Results of a nasal challenge test were positive to aniseed and negative to cinnamon; an aniseed oral food challenge test yielded a positive response. The molecular weights of the main immunoglobulin (Ig)E-binding proteins in aniseed extracts were approximately 48, 42, 39, 37, 34, 33, and 20 kD. Caraway, fennel, cumin, and coriander extracts showed similar IgE-binding patterns. Enzyme immunoassay inhibition studies with the patient's serum revealed cross-reactivity among the IgE components from aniseed, caraway, coriander, fennel, and dill extracts. CONCLUSIONS: We demonstrate the presence of aniseed allergens in a case of occupational rhinoconjunctivitis and food allergy, with molecular weights for this spice that differed from those previously reported.


Asunto(s)
Alérgenos/efectos adversos , Conjuntivitis Alérgica/etiología , Hipersensibilidad a los Alimentos/etiología , Enfermedades Profesionales/etiología , Pimpinella/efectos adversos , Rinitis Alérgica Perenne/etiología , Adulto , Alérgenos/inmunología , Anethum graveolens/inmunología , Carum/inmunología , Conjuntivitis Alérgica/inmunología , Coriandrum/inmunología , Femenino , Hipersensibilidad a los Alimentos/inmunología , Humanos , Inmunoglobulina E/sangre , Inmunoglobulina E/inmunología , Peso Molecular , Pruebas de Provocación Nasal , Pimpinella/inmunología , Extractos Vegetales/química , Extractos Vegetales/inmunología , Prueba de Radioalergoadsorción , Rinitis Alérgica Perenne/inmunología , Semillas/inmunología , Pruebas Cutáneas
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