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1.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 91-97. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000607

RESUMO

Congenital hypothyroidism (CH) is the most common endocrine disease in children, according to literature, infants with CH have an increased risk of associated congenital malformations (CM), especially cardiac defects (CD), compared to the general population. We retrospectively analyzed medical records of 255 patients with a positive screening result for CH in the period 1991-2016 followed at our Center. At the time of enrollment, the clinical examination included looking for the presence of heart murmurs and dysmorphic features. In all patients an echocardiography with cardiological evaluation were performed. Of all patients, 191 were included in the final analysis. Of these, 51.3% (98/191) presented an eutopic normally sized thyroid gland while 48.7% (93/191) showed a thyroid dysgenesis. Among the studied infants, 13.6% (26/191) presented CD. The most frequent cardiac anomaly was atrial septal defect (ASD) which was found in 65.4% (17/26) of patients with CD. Other defects were ventricular septal defect (VSD), patent ductus arteriosus (PDA), pulmonary valve stenosis (PvS), transposition of the great vessels (TGV), aortic valve stenosis (AvS). Six patients had multiple defects. In the analysed group, there was no significant relation with sex, type of CH, median blood-TSH (b-TSH) and serum-TSH (s-TSH) values and frequency of CD. There is a high prevalence of CD in CH, indicating the need of routine echocardiography in these patients to achieve an early diagnosis and management of CD.


Assuntos
Hipotireoidismo Congênito , Cardiopatias Congênitas , Criança , Hipotireoidismo Congênito/diagnóstico por imagem , Hipotireoidismo Congênito/epidemiologia , Ecocardiografia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Humanos , Estudos Retrospectivos
2.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000609

RESUMO

Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates accumulation, with consequent multi systemic clinical presentation. Cardiac disease is particularly important in some group of LSDs as glycogen storage diseases (Pompe), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease and less frequently Gaucher disease). Various cardiac manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease. The availability of enzyme replacement therapy (ERT) has changed the natural history of some LSDs such as Pompe disease, thanks to the significant effects on cardiological involvement. In other LSDs such as MPSs or Fabry disease, ERT has been shown to stabilize or slow the progression of heart damage. This imposes the need for a timely diagnosis that allows a rapid onset of ERT.


Assuntos
Doença de Fabry , Cardiopatias , Doenças por Armazenamento dos Lisossomos , Terapia de Reposição de Enzimas , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Doença de Fabry/tratamento farmacológico , Cardiopatias/etiologia , Humanos , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/tratamento farmacológico
3.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 99-106 SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000608

RESUMO

This study examined the prevalence and distribution of elevated systolic pulmonary arterial pressure, measured by echocardiography, in young patients with down syndrome associated or not with congenital heart disease and surgical correction during childhood. Pulmonary artery systolic pressure, computed by regurgitant tricuspid flow velocity evaluation, is the most frequently used parameter for the screening of pulmonary hypertension. Down syndrome and congenital heart disease often coexist and the probability to detect elevated systolic pulmonary arterial pressure in this setting is high. However, little is known about the evaluation of pulmonary arterial pressure during growth of patients with down syndrome with or without congenital heart disease. We enrolled 47 young patients (55% of male sex; mean age: 18.4 ± 6.0 years), 40 with congenital heart disease and 7 without a cardiac defect. Systolic pulmonary arterial pressure was assessed by echocardiography. No difference was found in the population dichotomized by presence or absence of CHD. Only male sex (p=0.000), highly sensitive troponin-T (P=0.027), tricuspid annular plane systolic excursion (TAPSE, p=0.045) and sPAP (p=0.004) were elevated in surgical group. The ASD was found as, the most common structural abnormality in our patients (50%), followed by VSD (27.5%) and complex CHD (such as complete atrioventricular canal defect, CAVC = 25% and Fallot disease = 15%). Furthermore, about 45% of patients had the combined defect. Only 37.5% of patients underwent to corrective surgery during the first months of life. We observed a significantly increase of sPAP values in patients with complex CHD, such as CAVC (p=0.019) and Fallot disease (p=0.001) but, in the following multivariate analysis performed in the patients with CHD, only Fallot disease remains as independent predictors of elevated values of sPAP (p=0.022). An elevated systolic pulmonary arterial pressure may represent the key screening tool in the diagnostic assessment of suspect pulmonary arterial hypertension in high risk population with down syndrome regardless the presence of congenital heart disease.


Assuntos
Síndrome de Down , Cardiopatias Congênitas , Adolescente , Pressão Sanguínea , Criança , Síndrome de Down/complicações , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/epidemiologia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Humanos , Masculino , Prevalência , Artéria Pulmonar/diagnóstico por imagem , Adulto Jovem
4.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000604

RESUMO

Mucolipidosis II and III are lysosomal storage diseases caused by pathogenetic mutations in GNPTAB and GNPTG genes which cause an impaired activity of the lysosomal hydrolase N-acetylglucosamine- 1-phosphotransferase, a key enzyme in the synthesis of the mannose-6-phosphate targeting signals on lysosomal enzymes. Patients with MLII alpha/beta present coarse facial features, cessation of statural growth, important skeletal manifestations, impaired neuromotor development and cardiorespiratory involvement. All children appear to have cardiac involvement, but severe dilated cardiomyopathy is uncommon. In this report we describe the case of an 11-month-old girl who is affected by a MLII. Analysis of the GNPTAB gene identified at a heterozygous level the previously described gene variants c. 2693delA p(Lys898Serfs*13) and c. 2956C>T p(Arg986Cys). Her main clinical features were coarse face with gingival hypertrophy, dysostosis multiplex, recurrent respiratory infection and an early onset of dilated cardiomyopathy, an uncommon feature for MLII. To our knowledge, dilated cardiomyopathy has been previously described in literature in only two cases of MLII and in one patient affected by MLIII.


Assuntos
Cardiomiopatia Dilatada , Mucolipidoses , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/diagnóstico por imagem , Cardiomiopatia Dilatada/genética , Criança , Feminino , Humanos , Lactente , Mucolipidoses/complicações , Mucolipidoses/diagnóstico , Mucolipidoses/genética , Mutação , Transferases (Outros Grupos de Fosfato Substituídos)/genética
5.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 59-63. Special Issue: Focus on Pediatric Nephrology, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630715

RESUMO

Anderson-Fabry Disease (AFD) is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficient or absent activity of the lysosomal enzyme, α-galactosidase A, resulting in the progressive multisystem lysosomal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3). Among the wide spectrum of clinical signs and symptoms and the life-threatening complications of Fabry disease, renal failure causes significant morbidity and mortality. Various evidence shows that the accumulation of Gb3 in different renal cells is present since the first years of life, many years and usually decades before manifest symptoms and signs of renal involvement. Early renal damage can be demonstrated by clinical signs as microalbuminuria and proteinuria, developing as early as in the second decade of life. A decline in GFR is uncommon at paediatric ages but may be seen as early as adolescence. Renal biopsy is rarely used in paediatric patients with Fabry disease although evidence shows that it may be considered a valid tool for the diagnosis of early and potentially reversible nephropathy, as well as for the evaluation of the effectiveness of enzyme replacement therapy (ERT). Although there is consensus in considering the early initiation of ERT as the only tool able to prevent the progression of nephropathy, the issue on the correct timing for the onset of ERT in pediatric age remains open in the management of this chronic and progressive disease.


Assuntos
Doença de Fabry/fisiopatologia , Rim/fisiopatologia , Criança , Progressão da Doença , Terapia de Reposição de Enzimas , Humanos , Triexosilceramidas , alfa-Galactosidase
6.
J Biol Regul Homeost Agents ; 33(5 Suppl. 1): 19-24. Special Issue: Focus on Pediatric Nephrology, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31630709

RESUMO

Alport's syndrome (AS, OMIM 301050) is a hereditary disorder characterized by progressive renal failure, hearing impairment and ocular changes. It is clinically and genetically heterogeneous and in its natural history, renal disease progresses from microscopic haematuria to proteinuria, and finally to progressive renal insufficiency. AS is caused by an inherited defect in a type IV collagen, a structural material, expressed in many tissues that is essential for the normal function of different parts of the body. In most of cases, about the 85%, Alport's syndrome is X-linked and is originated by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive, or rarely in an autosomal dominant manner. Mostly, the condition is caused by mutations in the COL4A3 or COL4A4 genes. Coexisting mutations in COL4A3, COL4A4, COL4A5 or COL4A6 were found to cause an Alport's syndrome phenotype with digenic inheritance. Diagnosis of the condition is based on family history, clinical signs, and specific procedures such as a kidney biopsy. The diagnosis can be confirmed by genetic testing. Treatment may include use of a hearing aid, hemodialysis, and peritoneal dialysis to treat those with end-stage renal failure, and, as the last step, kidney transplantation. Firstly described by Arthur C. Alport's, in 1927, over the years it has become a pathology of high scientific interest. At the moment, thanks to advances in diagnostic techniques, it is possible to make an early diagnosis avoiding irreversible damages and life -threatening complications.


Assuntos
Colágeno Tipo IV/genética , Nefrite Hereditária/genética , Humanos , Falência Renal Crônica , Mutação , Fenótipo
7.
J Endocrinol Invest ; 42(6): 633-638, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30324258

RESUMO

BACKGROUND: Pregnancy hormonal milieu represents a crucial determinant of fetal outcome. We aim to determine 17ß-estradiol (E2) and progesterone (PGT) concentrations in spontaneous pregnancies during the first trimester. In addition, we aim to determine E2 concentrations as a function of gestational age (GA) and PGT. METHODS: Between November 2015 and March 2017, 104 healthy women of at least 18 years undergoing medical consultation for voluntary interruption of pregnancy were enrolled in an observational study at University Hospital ASST Fatebenefratelli Sacco, Milan, Italy. Only singleton pregnancies between 5+0 and 13+6 weeks of gestation were eligible. First trimester ultrasound scans were performed for dating and one fasting venous blood sample was collected for E2 and PGT determinations. RESULTS: E2 and PGT concentrations steadily increased according to GA. The correlation between E2 on a logarithmic scale and PGT concentrations was expressed by the following equation, explaining 12.6% of E2 variance: logE2 = 2.57 + 0.1 × PGT, (r = 0.34, p < 0.001). By performing a multivariable linear regression analysis adjusted for variables significantly correlated with E2 concentrations, we obtained a model explaining the 53.5% of E2 variance. The final equation to determine E2 concentrations among Caucasian women was: logE2 = 1.96 + 0.01 × GA + 0.004 × PGT. CONCLUSIONS: Gestational week-specific reference intervals are reported for maternal E2 and PGT concentrations during early pregnancy, further providing a model for E2 assessment in this period. This will represent a starting point for further evaluations between twin and ART pregnancies, as well as to potentially improve pregnancy outcome and future health of the offspring.


Assuntos
Biomarcadores/sangue , Estradiol/sangue , Primeiro Trimestre da Gravidez/sangue , Progesterona/sangue , Adolescente , Adulto , Feminino , Seguimentos , Idade Gestacional , Humanos , Itália , Gravidez , Resultado da Gravidez , Prognóstico , Adulto Jovem
8.
Hum Reprod ; 32(3): 523-530, 2017 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-28104698

RESUMO

STUDY QUESTION: Is periconceptional maternal one-carbon (I-C) metabolism associated with embryonic morphological development in non-malformed ongoing pregnancies? SUMMARY ANSWER: Serum vitamin B12, red blood cell (RBC) folate and plasma total homocysteine (tHcy) are associated with embryonic development according to the Carnegie stages. WHAT IS KNOWN ALREADY: Derangements in maternal I-C metabolism affect reproductive and pregnancy outcomes, as well as future health of the offspring. STUDY DESIGN, SIZE, DURATION: Between 2010 and 2014, women with singleton ongoing pregnancies were enrolled in a prospective periconceptional cohort study. PARTICIPANTS/MATERIALS, SETTING, METHODS: A total of 234 pregnancies, including 138 spontaneous or IUI pregnancies with strict pregnancy dating and 96 pregnancies derived from IVF, ICSI or cryopreserved embryo transfer (IVF/ICSI pregnancies), underwent longitudinal transvaginal three-dimensional ultrasound (3D US) scans from 6+0 up to 10+2 weeks of gestation. Carnegie stages were defined using internal and external morphologic criteria in a virtual reality system. Maternal venous blood samples were collected at enrollment for serum vitamin B12, RBC folate and plasma tHcy assessment. Associations between biomarker concentrations and longitudinal Carnegie stages were investigated using linear mixed models. MAIN RESULTS AND THE ROLE OF CHANCE: We performed a median of three 3D US scans per pregnancy (range 1-5) resulting in 600 good quality data sets for the Carnegie stage annotation (80.5%). Vitamin B12 was positively associated with embryonic development in the total study population (ß = 0.001 (95% CI: 0.000; 0.002), P < 0.05) and in the subgroup of strictly dated spontaneous pregnancies (ß = 0.002 (95% CI: 0.001; 0.003), P < 0.05). Low vitamin B12 concentrations (-2SD, 73.4 pmol/l) were associated with delayed embryonic development by 1.4 days (95% CI: 1.3-1.4) compared with high concentrations (+2SD, 563.1 pmol/l). RBC folate was positively associated with Carnegie stages only in IVF/ICSI pregnancies (ß = 0.001 (95% CI: 0.0005; 0.0015), P < 0.05). In this group, low RBC folate concentrations (-2SD, 875.4 nmol/l) were associated with a 1.8-day delay (95% CI: 1.7-1.8) in development compared with high concentrations (+2SD, 2119.9 nmol/l). tHcy was negatively associated with embryonic development in the total study population (ß = -0.08 (95% CI: -0.14; -0.02), P < 0.01), as well as in the IVF/ICSI subgroup (ß = -0.08 (95% CI: -0.15; -0.01), P < 0.05). High tHcy concentrations (+2SD, 10.4 µmol/l) were associated with a delay of 1.6 days (95% CI: 1.5-1.7) in embryonic development compared with low concentrations (-2SD, 3.0 µmol/l). LIMITATIONS, REASONS FOR CAUTION: The study was performed in a tertiary care center, resulting in high rates of folic acid supplement use and comorbidity that may reduce the external validity of our findings. WIDER IMPLICATIONS OF THE FINDINGS: In periconceptional care, maternal I-C biomarkers should be taken into account as predictors of embryonic morphological development. Combining embryonic size measurements with morphological assessment could better define normal embryonic development. STUDY FUNDING/COMPETING INTEREST(S): The work was funded by the Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands. RPMST is CSO of the startup company Slimmere Zorg and CEO of eHealth Care Solutions. The authors declare no conflicts of interest. TRIAL REGISTRATION NUMBER: Not applicable.


Assuntos
Desenvolvimento Embrionário/fisiologia , Ácido Fólico/sangue , Homocisteína/sangue , Vitamina B 12/sangue , Adulto , Biomarcadores/sangue , Estudos de Coortes , Estatura Cabeça-Cóccix , Feminino , Humanos , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal , Adulto Jovem
9.
Ultrasound Obstet Gynecol ; 50(6): 709-716, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28078758

RESUMO

OBJECTIVE: To investigate the association between periconceptional maternal dietary pattern and first-trimester embryonic growth. METHODS: This was a prospective cohort study of 228 women with a singleton ongoing pregnancy, of which 135 were strictly dated spontaneous pregnancies and 93 were pregnancies achieved after in-vitro fertilization or intracytoplasmatic sperm injection (IVF/ICSI). All women underwent serial transvaginal three-dimensional ultrasound (3D-US) examinations from 6 + 0 to 13 + 0 weeks' gestation. Crown-rump length (CRL) and embryonic volume (EV) measurements were performed using a virtual reality system. Information on periconceptional maternal dietary intake was collected via food frequency questionnaires. Principal component analysis was performed to identify dietary patterns. Associations between dietary patterns and CRL and EV trajectories were investigated using linear mixed models adjusted for potential confounders. RESULTS: A median of five (range, one to seven) 3D-US scans per pregnancy were performed. Of 1162 datasets, quality was sufficient to perform CRL measurements in 991 (85.3%) and EV measurements in 899 (77.4%). A dietary pattern comprising high intake of fish and olive oil and a very low intake of meat was identified as beneficial for embryonic growth. In strictly dated spontaneous pregnancies, strong adherence to the 'high fish and olive oil, low meat' dietary pattern was associated with a 1.9 mm (95% CI, 0.1-3.63 mm) increase in CRL (+14.6%) at 7 weeks and a 3.4 mm (95% CI, 0.2-7.81 mm) increase (+6.9%) at 11 weeks, whereas EV increased by 0.06 cm3 (95% CI, 0.01-0.13 cm3 ) (+20.4%) at 7 weeks and 1.43 cm3 (95% CI, 0.99-1.87 cm3 ) (+14.4%) at 11 weeks. No significant association was observed in the total study population or in the IVF/ICSI subgroup. CONCLUSION: Periconceptional maternal adherence to a high fish and olive oil, low meat dietary pattern is positively associated with embryonic growth in spontaneously conceived pregnancies. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Dieta Mediterrânea , Desenvolvimento Embrionário/fisiologia , Fenômenos Fisiológicos da Nutrição Materna , Adulto , Estatura Cabeça-Cóccix , Feminino , Humanos , Países Baixos , Cooperação do Paciente , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal
11.
Am J Physiol Endocrinol Metab ; 306(4): E404-13, 2014 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-24347055

RESUMO

Intrauterine growth restriction (IUGR) and pregnancy hypertensive disorders such as preeclampsia (PE) associated with IUGR share a common placental phenotype called "placental insufficiency", originating in early gestation when high availability of energy is required. Here, we assess mitochondrial content and the expression and activity of respiratory chain complexes (RCC) in placental cells of these pathologies. We measured mitochondrial (mt)DNA and nuclear respiratory factor 1 (NRF1) expression in placental tissue and cytotrophoblast cells, gene and protein expressions of RCC (real-time PCR and Western blotting) and their oxygen consumption, using the innovative technique of high-resolution respirometry. We analyzed eight IUGR, six PE, and eight uncomplicated human pregnancies delivered by elective cesarean section. We found lower mRNA levels of complex II, III, and IV in IUGR cytotrophoblast cells but no differences at the protein level, suggesting a posttranscriptional compensatory regulation. mtDNA was increased in IUGR placentas. Both mtDNA and NRF1 expression were instead significantly lower in their isolated cytotrophoblast cells. Finally, cytotrophoblast RCC activity was significantly increased in placentas of IUGR fetuses. No significant differences were found in PE placentas. This study provides genuine new data into the complex physiology of placental oxygenation in IUGR fetuses. The higher mitochondrial content in IUGR placental tissue is reversed in cytotrophoblast cells, which instead present higher mitochondrial functionality. This suggests different mitochondrial content and activity depending on the placental cell lineage. Increased placental oxygen consumption might represent a limiting step in fetal growth restriction, preventing adequate oxygen delivery to the fetus.


Assuntos
Retardo do Crescimento Fetal/metabolismo , Mitocôndrias/metabolismo , Placenta/metabolismo , Pré-Eclâmpsia/metabolismo , Adulto , DNA Mitocondrial/metabolismo , Feminino , Retardo do Crescimento Fetal/patologia , Retardo do Crescimento Fetal/fisiopatologia , Humanos , Recém-Nascido , Mitocôndrias/patologia , Fator 1 Nuclear Respiratório/metabolismo , Consumo de Oxigênio , Placenta/patologia , Placenta/fisiopatologia , Pré-Eclâmpsia/patologia , Pré-Eclâmpsia/fisiopatologia , Gravidez , Trofoblastos/metabolismo , Trofoblastos/patologia
12.
J Clin Orthop Trauma ; 53: 102470, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39045495

RESUMO

Background: The success of Total Hip Arthroplasty (THA) is influenced by preoperative planning, with traditional 2D approaches displaying varied reliability as well. The present study investigates the use of Supervised Machine Learning (SML) models with patient-related features to improve accuracy. Methods: Preoperative and perioperative data, as well as planning and final implant information, were obtained from 800 consecutive cementless primary THA, which was performed uniformly by a specialized surgical team. Six Supervised Machine Learning models were trained and validated using patient characteristics and implant data: Logistic Regression (LR), Linear Discriminant Analysis (LDA), K-Nearest Neighbors (KNN), Decision Tree (CART), Gaussian Naive Bayes (GN), and Support Vector Classifier (SVC). The models' ability to predict planning reliability and leg length disparity was evaluated. Results: KNN performed better on the cup model (97.9 %), femur model (96.7 %), and femur size (99.2 %). SVM emerged as the model with the highest accuracy for cup size (60.4 %) and head size (62.1 %). CART had the best accuracy (99 %) when determining leg length discrepancy. Conclusion: The study demonstrates the utility of Supervised Machine Learning models, specifically KNN, in predicting the accuracy of preoperative planning in THA. The accuracy of these models, which are driven by patient-related characteristics, provides useful information for optimizing patients' selection and improving surgical outcome.

13.
Phys Chem Chem Phys ; 15(32): 13329-42, 2013 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-23703460

RESUMO

Catalytic and catalytic photo-assisted hydration of propene to form 2-propanol in gas-solid regime at atmospheric pressure and 85 °C were carried out by using a heteropolyacid (POM) supported on different oxides. Binary materials were prepared by impregnation of H3PW12O40 on different commercial and home prepared supports (TiO2, SiO2, WO3, ZrO2, ZnO, Al2O3). Some of the composites were active both for catalytic and catalytic photo-assisted reactions. The Keggin type POM was completely and partially degraded, when supported on ZnO and Al2O3, respectively, and these binary solids always resulted as inactive for both catalytic and catalytic photo-assisted reactions. The supported Keggin POM species played a key role both for the catalytic and the photo-assisted catalytic reactions, due to their strong acidity and ability to form strong oxidant species under UV irradiation, respectively. The contemporary presence of heat and UV light improved the activity of almost all POM supported materials. All materials were characterized by X-ray diffraction (XRD), scanning electron microscopy observations (SEM), diffuse reflectance spectroscopy (DRS), determination of the conduction and valence band energy by photovoltage measurements, Fourier transform infrared spectroscopy (FTIR), NH3-TPD experiments and time resolved microwave conductivity (TRMC).


Assuntos
Alcenos/química , Óxidos/química , Tungstênio/química , Catálise , Tamanho da Partícula , Processos Fotoquímicos , Pressão , Propriedades de Superfície , Água/química
14.
Hum Reprod Update ; 29(6): 699-720, 2023 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-37353909

RESUMO

BACKGROUND: Estrogens regulate disparate female physiological processes, thus ensuring reproduction. Altered estrogen levels and signaling have been associated with increased risks of pregnancy failure and complications, including hypertensive disorders and low birthweight babies. However, the role of estrogens in the periconceptional period and early pregnancy is still understudied. OBJECTIVE AND RATIONALE: This review aims to summarize the current evidence on the role of maternal estrogens during the periconceptional period and the first trimester of pregnancies conceived naturally and following ART. Detailed molecular mechanisms and related clinical impacts are extensively described. SEARCH METHODS: Data for this narrative review were independently identified by seven researchers on Pubmed and Embase databases. The following keywords were selected: 'estrogens' OR 'estrogen level(s)' OR 'serum estradiol' OR 'estradiol/estrogen concentration', AND 'early pregnancy' OR 'first trimester of pregnancy' OR 'preconceptional period' OR 'ART' OR 'In Vitro Fertilization (IVF)' OR 'Embryo Transfer' OR 'Frozen Embryo Transfer' OR 'oocyte donation' OR 'egg donation' OR 'miscarriage' OR 'pregnancy outcome' OR 'endometrium'. OUTCOMES: During the periconceptional period (defined here as the critical time window starting 1 month before conception), estrogens play a crucial role in endometrial receptivity, through the activation of paracrine/autocrine signaling. A derailed estrogenic milieu within this period seems to be detrimental both in natural and ART-conceived pregnancies. Low estrogen levels are associated with non-conception cycles in natural pregnancies. On the other hand, excessive supraphysiologic estrogen concentrations at time of the LH peak correlate with lower live birth rates and higher risks of pregnancy complications. In early pregnancy, estrogen plays a massive role in placentation mainly by modulating angiogenic factor expression-and in the development of an immune-tolerant uterine micro-environment by remodeling the function of uterine natural killer and T-helper cells. Lower estrogen levels are thought to trigger abnormal placentation in naturally conceived pregnancies, whereas an estrogen excess seems to worsen pregnancy development and outcomes. WIDER IMPLICATIONS: Most current evidence available endorses a relation between periconceptional and first trimester estrogen levels and pregnancy outcomes, further depicting an optimal concentration range to optimize pregnancy success. However, how estrogens co-operate with other factors in order to maintain a fine balance between local tolerance towards the developing fetus and immune responses to pathogens remains elusive. Further studies are highly warranted, also aiming to identify the determinants of estrogen response and biomarkers for personalized estrogen administration regimens in ART.


Assuntos
Estrogênios , Resultado da Gravidez , Gravidez , Feminino , Humanos , Primeiro Trimestre da Gravidez , Placentação , Fertilização in vitro , Estradiol
15.
Acta Chir Belg ; 112(1): 85-8, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22442918

RESUMO

BACKGROUND: Surgical treatment of hypertrophic cardiomyopathy (HC) may be challenging for the risk of surgical complications or insufficient resection. We present our cutting tool to perform proper muscular resection in HC. MATERIAL AND METHODS: Ten patients (5 males, mean age 43,1 +/- 19,6 years, range 9-70 years) were operated on for HC using this semicircular cutting device. Combined procedures were : mitral valve repair (n = 1), mitral valve replacement (n = 2), right ventricular myectomy (n = 1), aortic valve replacement (n = 1), mitral and aortic replacement (n = 1). RESULTS: There was one early death. All the surviving patients are alive over a variable follow up from 2 to 8 years, with consistent reduction of symptoms: in fact, no patient had residual angina with significant reduction of the NYHA class from 3,2 +/- 0,6 to 1,3 +/- 0,5 postoperatively (p < 0,05). Muscular resection was effective with significant reduction of sub-valvular gradient from 84.5 + 33,4 mmHg to 14,1 +/- 17,6 mmHg (p < 0,05) without complications such as complete atrio-ventricular block or ventricular septal defects. CONCLUSION: Our semicircular myotome is an effective tool to perform a safe myectomy and it avoids surgical complications such as atrio-ventricular blocks or sub-valvular injuries. Our experience suggests that this cutting tool offers a reproducible method for muscular resection and it shows appreciable effects in the reduction of sub-valvular gradient with promising results in terms of morbidity and mortality.


Assuntos
Procedimentos Cirúrgicos Cardíacos/instrumentação , Cardiomiopatia Hipertrófica/cirurgia , Septos Cardíacos/cirurgia , Adolescente , Adulto , Idoso , Criança , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
16.
G Chir ; 32(11-12): 464-6, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22217372

RESUMO

BACKGROUND: Indirect revascularization is a therapeutic approach in case of severe angina not suitable for percutaneous or surgical revascularization. Transmyocardial revascularization (TMR) is one of the techniques used for indirect revascularization and it allows to create transmyocardial channels by a laser energy bundle delivered on left ventricular epicardial surface. Benefits of the procedure are related mainly to the angiogenesis caused by inflammation and secondly to the destruction of the nervous fibers of the heart. PATIENTS AND METHOD: From September 1996 up to July 1997, 14 patients (9 males - 66.7%, mean age 64.8±7.9 years) underwent TMR. All patients referred angina at rest; Canadian Angina Class was IV in 7 patients (58.3%), III in 5 (41.7%). Before the enrollment, coronarography was routinely performed to find out the feasibility of Coronary Artery Bypass Graft (CABG): 13 patients (91,6%) had coronary arteries lesions not suitable for direct revascularization; this condition was limited only to postero-lateral area in one patient submitted to combined TMR + CABG procedures. RESULTS: Mean discharge time was 3,2±1,3 days after surgery. All patients were discharged in good clinical conditions. Perfusion thallium scintigraphy was performed in 7 patients at a mean follow-up of 4±2 months, showing in all but one an improvement of perfusion defects. Moreover an exercise treadmill improvement was observed in the same patients and all of them are in good clinical conditions, with significantly reduced use of active drugs. CONCLUSION; Our experience confirms that TMR is a safe and feasible procedure and it offers a therapeutic solution in case of untreatable angina. Moreover, it could be a hybrid approach for patients undergoing CABGs in case of absence of vessels suitable for surgical approach in limited areas of the heart.


Assuntos
Angina Pectoris/cirurgia , Revascularização Transmiocárdica a Laser , Idoso , Angioplastia Coronária com Balão , Arritmias Cardíacas/prevenção & controle , Ponte de Artéria Coronária , Feminino , Humanos , Balão Intra-Aórtico , Cuidados Intraoperatórios , Complicações Intraoperatórias/prevenção & controle , Lidocaína/uso terapêutico , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/cirurgia , Infarto do Miocárdio/terapia , Recidiva , Reoperação , Estudos Retrospectivos , Fatores de Risco , Revascularização Transmiocárdica a Laser/métodos , Revascularização Transmiocárdica a Laser/estatística & dados numéricos , Resultado do Tratamento
17.
Arch Soc Esp Oftalmol (Engl Ed) ; 96(7): 388-391, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34217478

RESUMO

Endogenous endophthalmitis (EE) accounts for approximately 2% to 8% of all cases of endophthalmitis. Candida albicans abscesses in the iris and ciliary body are a rare form of presentation, with only 3 cases reported up until now. The case is presented of a 27-year-old patient with an elevated lesion in the iris at the temporal zone of the left eye, with hypopyon, pupil membrane, and 4+ cells in the anterior chamber. Tests for syphilis and HIV were positive, and were associated with extraocular manifestations of secondary syphilis. Treatment with intravenous penicillin and HAART therapy were started, but the clinical course worsened after 7 days. Pars plana vitrectomy and an abscess aspiration were performed, and the intraocular fluids and the purulent content were sent for microbiological examination. Cultures were positive for Candida albicans. The case is presented of an anterior uveal abscess by Candida albicans in an HIV-positive patient not previously reported in the literature.


Assuntos
Candidíase , Endoftalmite , Infecções por HIV , Abscesso , Adulto , Candida albicans , Infecções por HIV/complicações , Humanos
18.
J Comp Pathol ; 176: 151-155, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32359629

RESUMO

Adipositas cordis (AC) is a rare cardiomyopathy characterized by fatty infiltration of the myocardium without signs of tissue destruction or inflammation. Its diagnosis is challenging and requires histopathological examination. This study describes such cardiomyopathy in two cats that died suddenly. In both cases, anatomopathological examination showed gross lesions indicative of acute heart failure, associated with an increase in subepicardial fat, particularly in the right ventricle. Microscopically, there was an increased amount of subepicardial and intramyocardial adipose tissue in the right ventricular free wall, without signs of cellular degeneration, inflammatory infiltration, necrosis or fibrosis, confirmed by histochemical staining. AC is a rare cardiac pathology, but it should be taken into consideration in feline medicine when a sudden death occurs.


Assuntos
Tecido Adiposo/patologia , Cardiomiopatias/veterinária , Doenças do Gato/patologia , Morte Súbita Cardíaca/veterinária , Miocárdio/patologia , Animais , Gatos , Feminino , Masculino
20.
Hernia ; 24(6): 1263-1273, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-31773546

RESUMO

PURPOSE: The use of cyanoacrylate (CA)-based tissue adhesives for mesh fixation in abdominal hernia repair is increasing due to the fast action and bond strength of these glues. The aim of the present study was to assess tissue changes induced by different CA glues used for mesh fixation in an animal model. METHODS: Parietal defects were induced in the abdominal wall of 60 rats and repaired by polyvinylidene fluoride (PVDF) mesh fixation using different CA glues. At 1, 7, 15, and 30 days post-surgery, macroscopic and histopathological studies were performed to evaluate mesh adhesion, the presence of complications and the tissue response. RESULTS: All meshes were successfully fixed without signs of inflammatory reaction, displacement or detachment. In areas where CA adhesives were applied, the acute tissue response was limited and transient. At 7 days post-surgery, collagen fibril production around prosthetic materials was observed, and collagen maturation was achieved at 30 days post-surgery. Good mesh incorporation was detected with all three glues, but the application of Glubran-2 was associated with an early macrophagic response and the early production and maturation of collagen fibrils. CONCLUSIONS: Our study confirmed that CA tissue adhesives induced the good incorporation of prosthetic mesh within host tissue with a low incidence of complications and reduced acute tissue reaction. At 30 days post-surgery no signs of mesh disinsertion or migration were observed, the prosthetic mesh adhesion was due to the presence of a dense mature connective tissue rich in type I collagen fibres.


Assuntos
Imuno-Histoquímica/métodos , Polivinil/uso terapêutico , Adesivos Teciduais/uso terapêutico , Animais , Modelos Animais de Doenças , Masculino , Ratos , Ratos Wistar
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