18 Months of Treatment with Triheptanoin in 2 Patients with Long Chain Fatty Acid Oxidation Disorders.

INTRODUCTION: Long-chain fatty acid oxidation disorders (LC-FAOD) are inborn errors of metabolism, also identified in newborn screening in Portugal. They interfere with adequate energy utilization, namely by muscles, heart, and liver. Treatment aims to maintain patients in an anabolic state, with increased caloric intake, using carbohydrates and medium-chain fatty acids. Treatment with triheptanoin (THP), a synthetic seven-carbon fatty acid triglyceride compound with an anaplerotic effect that increases energy availability to the cell, has been advocated as an efficacious and safe therapy in LC-FAOD. METHODS: Retrospective revision of clinical records of 2 LC-FAOD patients comparing number, severity and admissions for rhabdomyolysis crises, maximum CK values and weight gain in a period of 18 months before and after treatment with THP. RESULTS/CASE REPORT: Patient 1 is a 12 year old male with VLCADD, with main manifestation being rhabdomyolysis crises. After he started THP we found a decrease in admissions (6 to 2), less rhabdomyolysis crises treated at home (5 to 3), and lower maximum CK values (72352 U/L to 13.000U/L). He had a large increase in weight - 13kg in 18 months. He was able to start pool exercises with no rhabdomyolysis associated. Patient 2 is an 8 year old male with LCAHDD, with main manifestations being rhabdomyolysis crises and retinopathy. After he started THP we found a decrease in admissions (4 to 1), no rhabdomyolysis crises treated at home, and lower maximum CK values (100.000U/L to 19848 U/L). He also increased his weight - 7kg in 18 months. He plays football in school and swims with no rhabdomyolysis associated. In both patients, no major side effects were observed. CONCLUSION: In our patients, we could observe a reduction in the number of admissions, and less severe rhabdomyolysis crises after THP use. The weight gain was significant. There were no major side effects. Despite regarding only two patients, our findings are in line with the latest literature on THP and LC-FAOD, reinforcing the utility of THP as one more tool in the treatment of these disorders with rhabdomyolysis as the main manifestation. The weight increase is an issue to be aware of and to address from the start of the treatment.

Life Cycle Assessment of Thermoactivated Recycled Cement Production.

The urgent need to tackle the effects of global warming has led to a worldwide compromise and ever-more demanding regulations. In this respect, as an important greenhouse gas emitter, the cement industry has to implement major changes in its production processes to achieve future goals. In this perspective, low-carbon eco-efficient cement, such as the thermoactivated recycled cement from concrete waste (RCC), seem to be a promising alternative to current carbon-intensive binders, such as ordinary Portland cement (OPC). This study aimed to demonstrate the potential contribution of RCC to the reduction in the environmental impacts of the cement industry, by means of a comparative life cycle assessment of three production methods of this binder (wet (WM), dry (DM) and air clean (ACM) methods) and OPC. Overall, RCC WM did not turn out to be a good alternative to OPC, essentially owing to the amount of fuel and electricity required for washing and drying the particles before the magnetic separation. On the other hand, RCC DM and RCC ACM proved to be promising alternatives to RCC WM and OPC, with a relevant reduction in all impact categories.

Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities.

OBJECTIVE: The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). METHODS: This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. RESULTS: An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed a malformation: one case of hypospadias and 1 case of cleft palate. CONCLUSION: The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

OBJETIVO: O objetivo do presente estudo foi determinar a frequência de malformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA). MéTODOS: Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico pré-natal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais. RESULTADOS: Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina. CONCLUSãO: A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.

Non-compacted myocardium and foetal left isomerism as a hydrops' aetiology.

We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70-90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

Influence of the Treatment Temperature on the Microstructure and Hydration Behavior of Thermoactivated Recycled Cement.

This paper intends to contribute to a better knowledge of the production and rehydration of thermoactivated recycled cement and its incorporation in cement-based materials. To this end, the influence of the treatment temperature on the properties of recycled cements and recycled cement pastes was assessed by means of a wide array of tests. Anhydrous recycled cement as well as the resulting pastes were characterized through density and particle size, water demand and setting time, thermogravimetry, X-ray diffraction, field emission gun scanning electron microscopy, isothermal calorimetry, 29Si nuclear magnetic resonance spectroscopy, flowability, mechanical strength, mercury intrusion porosimetry and scanning electron microscopy. The treatment temperature had a significant influence on the dehydration and hydration of recycled cement, essentially resulting in the formation of C2S polymorphs of varying reactivity, which led to pastes of different fresh and hardened behaviors. The high water demand and the pre-hydration of recycled cement resulted in high setting times and low compressive strengths. The highest mechanical strength was obtained for a treatment temperature of 650 °C.

Pertussis with severe pulmonary hypertension in a newborn with good outcome - case report.

In spite of the availability and widespread use of vaccines, pertussis is far from controlled. Newborns and infants too young to be fully vaccinated, born from mothers with low antibody titers to Bordetella pertussis, are highly susceptible to infection and at risk of severe disease and death. Pertussis associated with pulmonary hypertension in the newborn is often fatal. The authors report a clinical case of severe pertussis -induced respiratory failure associated to severe pulmonary hypertension in a neonate successfully treated with sildenafil and inhaled nitric oxide.

Prenatal diagnosis of congenital complete heart block.

Congenital complete heart block (CHB) is a conduction defect with an incidence in the general population of 1/15,000 to 1/22,000 live births. It is frequently associated with structural heart defects or maternal autoimmune disease. We describe a case of CHB associated with maternal systemic lupus erythematosus and review our previous cases and experience of CHB.

Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities / Diagnóstico pré-natal de artéria subclávia direita anômala: associação com anormalidades genéticas

Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed amalformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

Resumo Objetivo O objetivo do presente estudo foi determinar a frequência demalformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA). Métodos Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico prénatal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais. Resultados Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina. Conclusão A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.

Exercise testing in pediatric cardiology.

Exercise testing in pediatric patients differs in many aspects from the tests performed in adults. Diseases that are associated with myocardial ischemia are very rare in children. Their cardiovascular response to exercise presents different characteristics, particularly maximal heart rate and blood pressure response, which are essential in interpreting hemodynamic data. The main indications for exercise testing in children are evaluation of exercise capacity and identification of exercise-induced arrhythmias. There are many testing protocols, but the Bruce protocol is widely used in many pediatric cardiac centers. In this article the authors describe the main indications for exercise testing in children with congenital heart disease, the contraindications for exercise testing and the indications for terminating an exercise test.

How important is a cardiac echogenic focus in a routine fetal examination?

UNLABELLED: Intracardiac echogenic foci are very frequent findings during routine fetal ultrasound examination and sometimes a reason for referral of patients for fetal echocardiography. OBJECTIVE: To assess the incidence of echogenic intracardiac foci in a mixed population of fetuses at high and low risk for congenital heart defects, and to determine whether the association between echogenic foci and congenital heart disease is stronger than in the general fetal population. DESIGN: Retrospective evaluation of clinical files at two fetal cardiology referral centers, during the last two years. All cases that had at least one echogenic focus were selected for our study. Maternal age, gestational age, reason for referral, location and number of echogenic foci, chromosomal abnormalities and cardiac defects were analyzed. As previous studies suggest increased risk of trisomy associated with echogenic foci and considering that congenital heart defects are more frequent in fetuses with trisomy 21, we excluded all fetuses with aneuploidy from our study. RESULTS: Thus, 753 clinical files were reviewed, of which 61 (8.1%) had a fetus with at least one echogenic focus. Mean maternal age was 29.0 years (minimum--19 years, maximum--43 years). Mean gestational age at the time of the examination was 23.4 weeks (minimum--19 weeks, maximum--31 weeks). In 48.0% the reason for referral for fetal echocardiography was the existence of echogenic foci previously seen during a routine maternal examination. Increased nuchal translucency in 13.0% of pregnant women, maternal age in 10.0%, family history of congenital heart defects in 8.4%, suspicion of cardiac malformation in the obstetric scan in 4.2%, twinning in 4.0%, history of miscarriage in 2.1% and maternal pathology in 10.3% were other referral reasons. In 53 cases a single echogenic focus was found, 44 of them inside the left ventricle and 9 in the right ventricle. Multiple echogenic foci were found in the different heart chambers in the eight remaining cases. Fifty-six fetuses had a structurally normal heart and in five (8.1%) a cardiac defect was found. CONCLUSION: Echogenic foci are commonly seen inside heart chambers during routine fetal heart scanning, the left ventricle being the most frequent location. Although they probably represent a normal variant of papillary muscle development their presence should be interpreted as a possible risk for congenital heart defects.

Patients with aortic coarctation operated during the first year of life, different surgical techniques and prognostic factors--21 years of experience.

UNLABELLED: The authors reviewed the clinical files of all patients with coarctation of the aorta (CoAo) operated during the first year of life, in a tertiary center, in order to assess the outcome of different surgical techniques and prognostic factors. MATERIAL AND METHODS: The study included all patients operated from 1 June 1980 to 1 June 2001. They were divided into three groups according to diagnosis: Group I--isolated CoAo (with or without persistent ductus arteriosus (PDA), group II--CoAo plus ventricular septal defect (VSD), and group III--CoAo associated with complex heart defects. The surgical techniques were divided into four groups: Group A--resection of the CoAo with end-to-end anastomosis, group B--Waldhausen technique (subclavian flap), group C--enlargement of the aorta with a patch, and group D--Waldhausen technique plus resection of the CoAo with end-to-end anastomosis. Several parameters were analyzed: sex, age at surgery, other surgical procedures during surgery, reoperation, mortality and outcome (good result, recoarctation). RESULTS: 156 patients were operated during the study period (84.5% of them since 1989). 61.5% were male. Surgery was performed between 3 and 336 days of life. 60.9% patients were included in group I, 32.7% in group II and 6.4% in group III. 25.0% of the patients had group A surgery, 60.2% group B surgery, 7.0% group C surgery and 7.7% group D surgery. The PDA was sectioned in 48.0% of the patients. It was necessary to perform banding of the pulmonary artery, during the first surgery, in 19.9% of cases. 18.6% needed a second operation to close the VSD and for debanding or repair of associated defects. Total mortality was 19.2%. Mortality rate per groups was: Group I--15.8%, group II--21.5%, group III--30.0%, group A--18.0%, group B--19.1%, group C--27.2% and group D--16.7%. In 7.6% of the patients recoarctation was found during follow-up. 40% of the patients are doing well with no medication and minor or no residual defects. 29.4% were lost to follow-up. CONCLUSIONS: Total mortality has decreased over the years with the highest mortality found in Group C and Group III. The best results were achieved in patients with isolated CoAo. Long-term results were generally good with few recoarctations and a good quality of life.

Balloon pulmonary valvotomy performed in the first year of life.

OBJECTIVE: Evaluation of the global results after percutaneous pulmonary valvotomy with a balloon catheter performed in the first year of life. METHODS: We assessed retrospectively the data of 27 patients with pulmonary stenosis who underwent balloon valvotomy in the first 12 months of life, from January 1994 to July 2002. The following data were evaluated: gender, age at diagnosis, clinical presentation, echocardiographic features, other cardiac anomalies, age at balloon valvotomy, diameter of pulmonary annulus, initial and final pressure gradient across the valve, complications and follow-up. We used the median and the Wilcoxon test. For other variables we present the mean and standard deviation. RESULTS: Fourteen patients (52%) were female. We had two prenatal diagnoses. Age at diagnosis ranged between one and 60 days (median: 28.0). With regard to clinical presentation, one (4%) had isolated cyanosis, seven (28%) a systolic murmur and 17 (68%) both cyanosis and a systolic murmur. Associated malformations included: ventricular septal defect--two, dilatation of left pulmonary artery--one, supravalvar stenosis--one, and subvalvular membrane--one. The pulmonary annulus ranged between 4.5 and 11 mm (mean: 8.3 +/- 1.8). The procedure was performed in 23 patients aged 2 to 357 days (median: 60), 43.5% of cases in the first 28 days of life. Balloon diameter ranged from six to 14 mm (mean: 10.7 +/- 2.3). The median value of right ventricular peak systolic pressure before dilatation was 115 mmHg (variation: 60-212) and decreased to 48 mmHg (variation: 20-120) (p < 0.001). Significant infundibular stenosis was documented in five cases and propranolol was initiated after the procedure. In four cases the procedure was abandoned before dilatation. The follow-up period ranged from 0 to 101 months (mean: 40.1 +/- 32.1). The maximum instantaneous gradient between the right ventricle and the pulmonary artery ranged between 0 and 95 mmHg (mean: 23.7 +/- 19.5), and was more than 40 mmHg in 13% of the cases. CONCLUSIONS: Percutaneous pulmonary valvotomy with a balloon catheter performed in the first year of life is effective in relieving obstruction of the right ventricular outflow tract. The success rate was 78% (21 of 27 patients).

Testing different ecological scenarios in a temperate estuary: a contribution towards the implementation of the Ecological Potential assessment.

The concept of Ecological Potential was explored using the macrobenthic communities of the Mondego estuary (Portugal). Different scenarios (loss of a primary producer and intertidal habitat, and habitat modification due to hydromorphological changes and continued press perturbation) were tested to predict changes in the biology if hydromorphological pressures could be reversed, assuming that differences with and without the pressure could indicate the potential. Results showed noticeable changes in the system biology in each scenario. The approach followed, indicates that when data sets exist, differences in the measurement of ecological status with and without the hydromorphological change could be a way forward to determine the potential. In the particular case of the Mondego estuary, the South arm (physically unaltered water body) proved to be richer than the North (HMWB). For the Ecological Potential determination, the South arm could thus be used to derive and adjust future reference conditions for the North.