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1.
Aging Male ; 27(1): 2360529, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38828619

RESUMEN

OBJECTIVE: Studies suggest that men who undergo assisted reproductive technologies (ART) may have a higher risk of cardiovascular disease; however, limited data on this matter is available. This observational pilot study aimed to investigate the overall vascular health of fathers with history of intracytoplasmic sperm injection (ICSI) compared to fathers whose partners conceived spontaneously. METHODS: Diet quality, physical activity, sedentary behavior as well as overall vascular function including the assessment of pulse wave analysis, intima-media thickness (cIMT), arterial stiffness of the common carotid artery (CCA) and blood lipids, were evaluated. RESULTS: A total of 34 fathers with history of ICSI and 29 controls (48.49 [46.32 - 57.09] years vs. 47.19 [40.62 - 55.18] years, p = 0.061) were included. After adjusting for age, no significantly increased cardiovascular risk was detected regarding vascular function. CONCLUSIONS: The results suggest an unaltered cardiovascular risk profile in fathers with history of ICSI. In the future, prospective multicenter studies are required to validate these preliminary results.


Asunto(s)
Enfermedades Cardiovasculares , Grosor Intima-Media Carotídeo , Padre , Inyecciones de Esperma Intracitoplasmáticas , Humanos , Masculino , Proyectos Piloto , Persona de Mediana Edad , Adulto , Enfermedades Cardiovasculares/epidemiología , Análisis de la Onda del Pulso , Rigidez Vascular/fisiología , Ejercicio Físico/fisiología , Estudios de Casos y Controles
2.
J Cardiovasc Dev Dis ; 11(2)2024 Feb 18.
Artículo en Inglés | MEDLINE | ID: mdl-38392280

RESUMEN

The use of assisted reproductive technologies (ART) for the treatment of infertility is gaining popularity. Limited data on the overall vascular health of females with history of ART are available. This pilot study aimed to investigate the overall vascular health of females with history of ART compared to individuals who conceived spontaneously. The assessment of overall vascular health included the measurement of brachial blood pressure, central blood pressure, and pulse wave velocity, as well as the evaluation of the arterial stiffness and carotid intima-media thickness (cIMT) of the common carotid arteries. Conventional blood lipids including lipoprotein a (Lp(a)) were also determined. In total, 45 females with history of ART and 52 females who conceived spontaneously were included (mean age: 47.72 ± 5.96 years vs. 46.84 ± 7.43 years, p = 0.525). An initial comparison revealed a significantly higher prevalence of elevated Lp(a) in ART females (p = 0.011). However, after multiple comparison correction, the significant result disappeared (p = 0.132). Within the cohort of ART females, no significantly higher cardiovascular risk was detected regarding vascular function. The potentially higher prevalence of elevated Lp(a) in ART females must be further investigated in future studies, as it might contribute to the impaired reproductive process in this cohort.

3.
Transl Pediatr ; 12(9): 1619-1633, 2023 Sep 18.
Artículo en Inglés | MEDLINE | ID: mdl-37814707

RESUMEN

Background: Over 8 million individuals worldwide have been conceived through assisted reproductive technologies (ART). There is conflicting evidence on the cardiovascular health of ART offspring. This study aimed to investigate vascular function in a cohort of children, adolescents and young adults conceived through ART compared to spontaneously conceived peers. Methods: Anthropometric variables, diet quality, level of physical activity and sedentary behavior were assessed. An extensive evaluation of vascular function was conducted. Blood pressure as well as endothelial function were evaluated. Carotid intima-media thickness was recorded sonographically. Blood draws were taken to determine blood lipids as well as HbA1c. Results: In total, 66 ART subjects conceived through in vitro fertilization (IVF) or intracytoplasmic sperm injection and 86 spontaneously conceived peers were included in this observational cohort study. Both groups were similar in age [11.31 (8.10-18.00) vs. 11.85 (8.72-18.27) years, P=0.373]. ART subjects displayed a significantly higher body fat percentage [19.30% (15.80-26.02%) vs. 15.91% (13.21-21.00%), P=0.007]. Both groups did not differ significantly in diet quality, physical activity, sedentary behavior, and vascular function. Blood lipids and HbA1c were comparable between both groups. ART subjects showed significantly lower levels of triglycerides compared to spontaneously conceived peers. The prevalence of lipoprotein (a) [Lp(a)] ≥50 mg/dL tended to be higher within the ART cohort. Vascular function did not deteriorate more profoundly with age in ART subjects than in spontaneously conceived peers. Conclusions: The results of the current study do not indicate a significantly lower vascular function in a cohort of children, adolescents and young adults conceived through ART compared to spontaneously conceived peers. Future studies should address the prevalence of elevated Lp(a) levels in infertile individuals who sought ART treatment. In addition, more studies evaluating body fat percentage as well as cardiovascular morbidity in adult ART subjects are required. For a more precise cardiovascular risk stratification, multi-center studies with larger ART sample sizes, preferably at adult age, are required in the future.

4.
Nutrients ; 15(11)2023 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-37299498

RESUMEN

This review aims to investigate and summarize adverse health events in children and adolescents associated with energy drink (ED) consumption, while also exploring the impact of simultaneous trigger factors and/or preexisting health conditions. We searched the database of PubMed, Cochrane library, and Web of Science for cases associated with ED consumption in minors up to 9 May 2023. The literature written in English met inclusion criteria if patients were <18 years of age and the ED consumption was confirmed. Records, relevant articles, and reports that met all inclusion criteria were fully read by two researchers. In total, 18 cases reporting adverse health events were included. Of those, 45% affected the cardiovascular system, 33% the neuropsychological system, and 22% other organ systems. In 33% of cases, additional triggers were reported. In 44% preexisting health conditions were present. This literature review suggests that ED intake may well be associated with adverse health events in minors. The cardiovascular and the neuropsychiatric systems seem to be predisposed. ED consumption in combination with potential trigger factors or in the presence of preexisting health conditions appears to be critical. To prevent adverse health events in the future, children and adolescents should be informed about risk factors and responsible consumption behaviors.


Asunto(s)
Sistema Cardiovascular , Bebidas Energéticas , Humanos , Niño , Adolescente , Bebidas Energéticas/efectos adversos , Factores de Riesgo , Ingestión de Energía , Bases de Datos Factuales
5.
Pediatr Res ; 94(3): 1172-1179, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37061642

RESUMEN

BACKGROUND: Energy drinks (EDs) are popular beverages among minors. To date, clinical studies investigating ED-induced effects on the pediatric cardiovascular system are sparse. This study aimed to investigate the effects of a single, bodyweight-adjusted ED dosage on 24-h ambulatory blood pressure monitoring (ABPM) in healthy children and adolescents. METHODS: This study was a randomized, single-blind, placebo-controlled, crossover clinical trial. Study participants received a single, bodyweight-adjusted ED amount or a placebo drink on 2 consecutive days at similar morning hours. Twenty-four-hour ABPM was assessed via an automated oscillometric blood pressure device after beverage consumption on both study days. RESULTS: A total of 17 healthy children and teenagers (13.90 (12.29-17.89) years) were included in the final analysis. The ED consumption led, compared to the placebo intake, to a significantly higher 24-h systolic (115.90 (110.22-118.04) vs. 110.64 (108.09-115.45) mmHg, p = 0.013) and diastolic blood pressure (66.08 (64.20-68.32) vs. 62.63 (61.40-66.46) mmHg, p = 0.005). CONCLUSIONS: The single, bodyweight-adjusted ED consumption is linked with a significantly higher systolic as well as diastolic 24-h blood pressure in healthy children and adolescents. Minors, particularly those with an increased cardiovascular morbidity, should be discouraged from drinking EDs. IMPACT: Energy drinks (EDs) are consumed by many children and teenagers. While adverse cardiovascular events after ED consumption were reported in the literature, the effects of these beverages on the pediatric 24-h blood pressure profile have not been systematically evaluated yet. In our manuscript, we demonstrate for the first time that acute ED consumption is associated with a significantly higher 24-h systolic blood pressure and diastolic blood pressure in healthy minors.


Asunto(s)
Sistema Cardiovascular , Bebidas Energéticas , Adolescente , Humanos , Niño , Bebidas Energéticas/efectos adversos , Monitoreo Ambulatorio de la Presión Arterial , Método Simple Ciego , Presión Sanguínea , Peso Corporal
6.
Front Cardiovasc Med ; 10: 1059713, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36937909

RESUMEN

Background: Over the past decades, assisted reproductive technologies (ART) have gained remarkable influence in the treatment of infertility and account for more than 2 % of births in European countries nowadays. Accumulating evidence suggests ART to cause cardiovascular alterations, including left ventricular (LV) dysfunctions, within its offspring. The aim of this study was to assess LV systolic function in subjects conceived through ART in comparison to spontaneously conceived peers. Methods: For the assessment of LV morphology and LV function, M-Mode echocardiography, pulsed wave Doppler and two-dimensional speckle tracking echocardiography (2DSTE) were applied. LV ejection fraction (EF) and fractional shortening (FS) were assessed in M-Mode and calculated by Teichholz formula. EF was additionally assessed semiautomatically through 2DSTE. Results: In total, 64 ART subjects and 83 spontaneously conceived controls with no significant differences in age (12.52 ± 5.64 years vs. 13.20 ± 5.95 years, p = 0.486) and sex were included in the analysis. In the ART cohort, significantly lower values were observed for M-Mode assessed EF (63.63 ± 5.17 % vs. 65.35 ± 5.10 %, p = 0.046) and FS (34.26 ± 3.87 % vs. 35.60 ± 3.84 %, p = 0.038). However, after the adjustment for birth weight percentile and gestational age, M-Mode assessed EF and FS displayed no significant differences between both groups. LV morphology and remaining systolic function parameters, such as mitral annular plane systolic excursion, aortic velocity time integral, global peak longitudinal strain and 2DSTE measured EF, were comparable between both groups. Conclusion: This study suggests a lower LV systolic function in ART subjects, visualized by significantly lower values for M-Mode assessed EF and FS, compared to spontaneously conceived peers. The clinical relevance of these findings has to be investigated as the above-mentioned parameters were in normal reference range. In addition, LV systolic function parameters evaluated by other echocardiographic imaging modalities were comparable between both groups. Therefore, further studies will be required to evaluate the influence of ART on LV systolic function and cardiovascular morbidity in the future.

7.
J Clin Med ; 11(23)2022 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-36498705

RESUMEN

Subjects conceived through assisted reproductive technologies (ART) potentially suffer from impaired left ventricular (LV) function due to premature vascular aging. This study aimed to evaluate whether subtle differences in LV diastolic function can be observed echocardiographically between young ART subjects and their spontaneously conceived peers. The echocardiographic assessment included the measurement of LV dimensions, mitral inflow velocities, and myocardial velocity at early diastole (E', cm/s) at the LV wall and the interventricular septum (IVS). An average from E/E'LV and E/E'IVS (E/E'AVG) was derived. In total, 66 ART subjects and 83 controls (12.85 ± 5.80 years vs. 13.25 ± 5.89 years, p = 0.677) were included. The ART subjects demonstrated a significantly lower E'LV (19.29 ± 3.29 cm/s vs. 20.67 ± 3.78 cm/s, p = 0.020) compared to their spontaneously conceived peers. Study participants of ≥ 10 years of age displayed a significantly higher E/E'AVG (6.50 ± 0.97 vs. 6.05 ± 0.99, p = 0.035) within the ART cohort. The results of this study demonstrate a significantly lower LV diastolic function in the ART subjects. However, no significant changes in LV diastolic function were observed between the two groups when the results were adjusted for age, birth weight percentile, and gestational age. Those ART subjects born preterm might have an elevated risk of developing LV diastolic alterations and could therefore profit from close echocardiographic monitoring.

8.
Pediatr Cardiol ; 2022 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-36401124

RESUMEN

An increasing number of children are conceived by assisted reproductive technologies (ART). Several studies indicated vascular alterations in ART children. However, limited data is available within the adult ART population. Therefore, this study investigated the overall vascular health of young ART adults in comparison to spontaneously conceived peers. In total, 16 ART subjects and 22 spontaneously conceived peers (22.06 ± 2.21 years vs. 22.00 ± 2.14 years, p = 0.194) were enrolled for the assessment of endothelial function, brachial blood pressure, central blood pressure, pulse wave velocity, carotid intima-media thickness, and blood lipids. No significant differences in vascular function were detected between the in vitro fertilization subgroup (n = 9), the intracytoplasmic sperm injection subgroup (n = 7) and spontaneously conceived peers. This pilot study suggests an unimpaired vascular function in young ART adults. In the future, multi-centric studies with a greater sample size are required to confirm the results of the current study and enable precise cardiovascular risk stratification of the adult ART population.

9.
Diagnostics (Basel) ; 12(11)2022 Nov 11.
Artículo en Inglés | MEDLINE | ID: mdl-36428823

RESUMEN

Multiple studies reported signs of vascular dysfunction in subjects conceived through assisted reproductive technologies (ART). The assessment of arterial stiffness in this cohort seems beneficial for risk stratification. Regional arterial stiffness of the abdominal aorta (AAO) and the common carotid arteries (CCA) was evaluated sonographically using two-dimensional speckle tracking in subjects conceived through ART and spontaneously conceived peers. Global arterial stiffness was assessed utilizing an oscillometric blood pressure device. The cohorts of 67 ART subjects and 86 spontaneously conceived peers (11.31 (8.10-18.20) years vs. 11.85 (8.72-18.27) years, p = 0.43) did not differ significantly in parameters of regional and global arterial stiffness. In the sub-analysis of study participants ≥10 years of age, markers of arterial stiffness did not display significant differences between both groups. However, a higher tendency of brachial systolic blood pressure was demonstrated in the ART cohort compared to the control group (120.18 ± 9.57 mmHg vs. 116.55 ± 8.05 mmHg, p = 0.050). The present study displayed no significant differences in arterial stiffness between ART subjects and spontaneously conceived peers. Moreover, this study suggests that arterial stiffness does not elevate more profoundly in ART subjects with increasing age. Further studies are required for a more detailed cardiovascular risk stratification of the ART cohort.

10.
Sensors (Basel) ; 22(19)2022 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-36236307

RESUMEN

Background: Minors are considered the main consumer group of energy drinks (EDs). The aim of this study was to investigate the acute effects of ED consumption on left ventricular (LV) hemodynamics and efficiency in healthy children and teenagers. Methods: This study was a randomized, single-blind, placebo-controlled, crossover clinical trial. Study participants consumed a weight-adjusted amount of an ED or a placebo on two consecutive days. LV hemodynamics and efficiency parameters were evaluated non-invasively by generating LV pressure−volume loops (PVLs) through simultaneous echocardiography and blood pressure measurement. Results: A total of 24 children and teenagers (14.90 ± 2.27 years, 13 male) were included in the present study. Conventional echocardiographic parameters of LV function did not show significant differences between both beverage groups. The non-invasive generation of LV PVLs revealed a significantly lower cardiac efficiency 240 min after the ED consumption compared to the placebo intake (140.72 (133.21−149.73) mmHg vs. 135.60 (124.78−140.33) mmHg, p < 0.01). Conclusions: Acute ED consumption is associated with a significantly lower cardiac efficiency in healthy minors. The generation of non-invasive LV PVLs might be beneficial in the assessment of subtle changes in LV efficiency. Further studies need to investigate the influence of chronic ED consumption on LV function and morphology.


Asunto(s)
Bebidas Energéticas , Adolescente , Niño , Ventrículos Cardíacos , Hemodinámica , Humanos , Masculino , Método Simple Ciego , Función Ventricular Izquierda/fisiología
11.
J Clin Med ; 11(8)2022 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-35456180

RESUMEN

Adolescents are the main consumer group of energy drinks (ED). Studies suggest that acute ED consumption is associated with increased peripheral blood pressure. Little is known of the ED-induced effects on arterial stiffness. Therefore, this study aimed to investigate the acute effects of ED consumption on arterial stiffness in healthy children and teenagers by conducting a prospective, randomized, single-blind, placebo-controlled, crossover clinical trial. Study participants (n = 27, mean age = 14.53 years) consumed a body-weight-adjusted amount of an ED or a placebo on two consecutive days. Arterial stiffness was evaluated sonographically by two-dimensional speckle tracking of the common carotid artery (CCA) at baseline and up to four hours after beverage consumption. The ED intake led to a significantly decreased peak circumferential strain of the CCA (11.78 ± 2.70% vs. 12.29 ± 2.68%, p = 0.043) compared with the placebo. The results of this study indicate that the acute ED consumption might be associated with increased arterial stiffness in healthy children and teenagers. Minors, particularly those with increased cardiovascular morbidity, should be discouraged from ED consumption.

12.
Front Cardiovasc Med ; 9: 862041, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35387431

RESUMEN

Background: The consumption of Energy Drinks (ED) is very popular among children and teenagers. While potential cardiovascular side effects of these beverages are suggested, the acute impact of ED consumption on the pediatric cardiovascular system has not been systematically examined yet. The aim of this study was to investigate the acute effects of ED consumption on blood pressure and heart rate in healthy children and teenagers. Methods: This study was a randomized, single-blind, placebo-controlled, crossover clinical trial. On two consecutive days, the study participants were asked to consume a weight-adjusted amount of an ED (3 mg caffeine per kg of body weight) or a placebo containing a similar amount of sugar but without conventional ED ingredients. Systolic blood pressure (SBP), diastolic blood pressure (DBP) and heart rate were measured at the following time points: baseline as well as 30, 60, 120 and 240 min after beverage consumption. Results: In total, 27 healthy children and adolescents (mean age 14.53 ± 2.40 years, 14 male) were included in the present study. Compared to placebo intake, mean SBP was demonstrated to be up to 5.23 mmHg (p < 0.0001) and mean DBP up to 3.29 mmHg (p < 0.001) increased after ED consumption. Prevalence of elevated blood pressure, stage 1 and stage 2 hypertension was higher after ED consumption. Heart rate tended to be lower after ED consumption. Conclusions: The acute ED consumption is associated with a significantly increased SBP and DBP in healthy children and teenagers. Minors, particularly those with pre-existing health conditions, should be discouraged from drinking EDs. Clinical Trial Registration: https://www.drks.de/drks_web/, identifier: DRKS00027580.

13.
Healthcare (Basel) ; 10(3)2022 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-35326982

RESUMEN

BACKGROUND: This study aimed to investigate whether the cardiovascular care of Turner Syndrome (TS) women in Germany is in accordance with the latest clinical practice guidelines established by the 2016 Cincinnati international TS meeting. METHODS: An anonymous online questionnaire was created to ask TS subjects about existing cardiovascular conditions and cardiovascular care received. Depending on cardiovascular morbidity and type of medical care received, the fulfillment of the latest clinical practice guidelines for the care of TS women was assessed. RESULTS: 120 TS patients were included in this study. The mean age of TS subjects was 36.79 years. Only 80% of subjects received annual blood pressure measurements within the TS cohort, and only 60% received cardiac imaging according to international clinical practice guidelines. More than 55% of TS women did not feel well informed about TS-specific cardiovascular risk factors by their treating physician. CONCLUSIONS: A potential lack of cardiovascular care might be present in TS women in Germany as the results of this online patient survey suggest. The cardiovascular care of TS patients, particularly cardiac imaging and patient education, needs to receive more attention.

14.
Cells ; 11(3)2022 01 31.
Artículo en Inglés | MEDLINE | ID: mdl-35159306

RESUMEN

Beyond their effect on blood pressure, the effect of energy drinks on heart rate in children and teenagers has not been evaluated until now. Thus, this study aimed to investigate the acute cardiovascular effects of energy drinks in healthy children and teenagers. Twenty-six children and adolescents (mean age 14.49 years) received a commercially available energy drink (ED) and placebo on two consecutive days based on the maximum caffeine dosage as proposed by the European Food Safety Authority. Heart rhythm and electrocardiographic time intervals were assessed in a prospective, randomized, double-blind, placebo-controlled, crossover clinical study design. ED consumption resulted in a significantly increased number of supraventricular extrasystoles (SVES) compared to the placebo, whereas supraventricular tachycardia or malignant ventricular arrhythmias were not observed. The mean heart rate (HR) was significantly lower following consumption of EDs. In contrast, QTc intervals were not affected by EDs. Being the first of its kind, this trial demonstrates the cardiovascular and rhythmological effects of EDs in minors. Interestingly, EDs were associated with adverse effects on heart rhythm. Whether higher dosages or consumption in children with preexisting conditions may cause potentially harmful disorders was beyond the scope of this pilot study and remains to be determined in future trials. Trial Registration Number (DRKS-ID): DRKS00027580.


Asunto(s)
Bebidas Energéticas , Adolescente , Niño , Electrocardiografía , Bebidas Energéticas/efectos adversos , Frecuencia Cardíaca , Humanos , Proyectos Piloto , Estudios Prospectivos
15.
Immunol Invest ; 51(4): 826-838, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-33501869

RESUMEN

Kawasaki disease (KD)), also known as mucocutaneous lymph node syndrome (MCLS), is an autoimmune and systemic vasculitis syndrome. Its etiology and pathogenesis are still unclear. microRNAs (miRNA), a novel class of small non-coding RNAs, regulate the expression of multiple protein-encoding genes at the post-transcriptional level. We intend to study the change of miRNA-133a in the plasma of patients with KD, explore the role of miRNA-133a on HUVEC and define the pathogenesis of vascular dysfunction in KD. miRNA-133a expression and the mRNA and protein expression of protein phosphatase 2 catalytic subunit alpha (PPP2CA) were assessed by RT-qPCR and Western blot, respectively. The PPP2CA mRNA 3'UTR was predicted to be the potential target of miRNA-133a by using the miRNA databases and verified by the luciferase assay. The plasmids of miRNA-133a mimics and inhibitors were transfected into HUVEC cells. The plasma soluble vascular endothelial cadherin (sVE-cadherin, the excised extracellular part of VE-cadherin) levels were investigated by ELISA. The results suggested that miRNA-133a was increased by 3.8 times in the acute KD group and by 2.7 times in the convalescent KD group compared with the control group (both P = .000). PPP2CA is the target gene of miRNA-133a and its expression was inhibited by miRNA-133a acting on PPP2CA mRNA 3'UTR (P = .013). The plasma sVE-cadherin levels in the acute KD groups were increased compared with the control group (P = .024). The ROC curve analysis showed that the expression of miRNA-133a segregate acute KD patients from convalescent KD patients and healthy children. Our results suggest that miRNA-133a might be a new biomarker for KD.


Asunto(s)
MicroARNs , Síndrome Mucocutáneo Linfonodular , Regiones no Traducidas 3'/genética , Cadherinas/genética , Niño , Células Endoteliales de la Vena Umbilical Humana , Humanos , MicroARNs/genética , Síndrome Mucocutáneo Linfonodular/genética , ARN Mensajero
16.
BMC Med Genomics ; 14(1): 252, 2021 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-34702267

RESUMEN

BACKGROUND: Mutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw-Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a very rare case of TTP caused by 2 mutations in the ADAMTS13 gene. Besides, we reviewed and summarized previous pathogenic ADAMTS13 gene mutations associated with the TTP. CASE PRESENTATION: A 10-year-old female was admitted to the Third Xiangya Hospital of Central South University after experiencing discontinuous thrombocytopenia for 8 years, abnormal renal function for more than 2 years, cough for more than 10 days, and weakness of the left limb for 3 days. Gene sequencing shows the patient's ADAMTS13 gene contains compound heterozygous nucleotide variations: c.1335delC (p. Phe445LeufsTer52) is a frameshift variation inherited from her father and c.2130C > G (p. Cys710Trp) is a missense variation inherited from her mother. The final diagnosis was USS. CONCLUSIONS: Our study reports a very rare genetic TTP case caused by two compound heterozygous variants in the ADAMTS13 gene. The effect of these two mutations on the secretion of ADAMTS13 requires further in vitro experiments to confirm.


Asunto(s)
Proteína ADAMTS13/genética , Mutación , Púrpura Trombocitopénica Trombótica/genética , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Púrpura Trombocitopénica Trombótica/diagnóstico
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