Tyrosinemia type 1 in pediatric nephrology: Not always straightforward

The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications. Here, we report on two cases referred primarily to pediatric nephrologists for the diagnosis of “neonatal tubulopathy” and management of “X-linked hypophosphatemia (XLH),” respectively. Our aim is to emphasize that (1) even a mixed tubulopathy can reveal tyrosinemia, and (2) tyrosinemia is a classic differential diagnosis of XLH that should not be forgotten, especially in the era of the anti-FGF23 burosumab.     

Long-term single procedure efficacy of catheter ablation of atrial fibrillation

Background Two important limitations of the data regarding the outcomes of catheter ablation of atrial fibrillation (AF) are the short-term follow-up used in most published studies and the lack of single-procedure outcomes.Objective The objective was to report the long-term single-procedure outcomes at our center.Materials and methods The patient population was comprised of 200 consecutive patients who underwent ablation (133 men; age 56 ± 11 years). Atrial fibrillation was paroxysmal in 92 (46%). Success was defined as absence of symptomatic AF, off antiarrhythmic drug (AAD) after a single procedure.Results After a follow-up of 26 ± 11 months, the single-procedure long-term success rate was 28% with an additional 7% of patients demonstrating improvement. After including repeat procedures in 64 patients, the overall long-term success rate was 41% with 11% demonstrating improvement. Further subgroup analysis of 48 paroxysmal AF patients considered to be optimal candidates for the procedure, revealed a long-term success rate of 69% with an additional 4% demonstrating improvement. A major complication occurred in 7.9% of patients.Conclusion The results reveal that the long-term single-procedure success rate of catheter ablation of AF in a cohort of patients with predominantly non-paroxysmal AF is less than 40%. The inclusion of redo procedures resulted in an improvement in outcomes. A much higher success rate of 69% was achieved in patients with paroxysmal AF considered to be optimal candidates for this procedure. These results make it clear that further advances in the technique of catheter ablation of AF are needed to improve the safety and efficacy of this procedure. In order to be able to compare outcomes of various techniques in differing patient populations, we urge investigators to report long-term single procedure outcomes.This study was supported by The Norbert and Louise Grunwald Cardiac Arrhythmia Research Fund.     

Actinomyces graevenitzii pulmonary abscess mimicking tuberculosis in a healthy young man

Pulmonary actinomycosis is a rare disease that is often misdiag-nosed as tuberculosis or lung cancer. Actinomyces graevenitzii is a relatively new recognized Actinomyces species isolated from various clinical samples. The authors report a case of pulmonary actinomycosis caused by A graevenitzii. A computed tomography examination revealed an excavated consolidation in the middle right lobe of a previously healthy young man who presented with a long history of moderate cough. Cultures of the bronchoalveolar lavage fluid confirmed the diagnosis of pulmonary abscess caused by A gravenitzii. At the three-month follow-up consultation and, after six weeks of high-dose amoxicillin, the pulmonary lesion had completely disappeared.     

Protective Effect of Vitamin E Against Ethanol-Induced Hyperhomocysteinemia, DNA Damage, and Atrophy in the Developing Male Rat Brain

Background:  Chronic alcoholism leads to elevated plasma and brain homocysteine (Hcy) levels, as demonstrated by clinical investigations and animal experiments. It has been posited that elevated levels of Hcy mediate DNA damage, brain atrophy, and excitotoxicity. The current study sought to elucidate the effect of vitamin E on ethanol-induced hyperhomocysteinemia, DNA damage, and atrophy in the developing hippocampus and cerebellum of rats.
Methods:  Pregnant Wistar rats received ethanol with or without vitamin E from gestation day 7 throughout lactation. Weight changes in the brain, hippocampus and cerebellum, DNA damage, and Hcy levels in the plasma, hippocampus, and cerebellum of male offspring were measured at the end of lactation.
Results:  The results revealed that along with a significant decrease in brain, cerebellum, and hippocampus weights in animals that received alcohol, the levels of DNA damage and Hcy significantly increased. Significant amelioration of brain atrophy and DNA damage as well as restoration of the elevated level of Hcy to that of controls were found in vitamin E-treated rats.
Conclusions:  These findings strongly support the idea that ethanol intake by dams during pregnancy and lactation induces Hcy-mediated oxidative stress in the developing hippocampus and cerebellum of offspring rats, and that these effects can be alleviated by vitamin E as an antioxidant.     

Incidence and time course of early recovery of pulmonary vein conduction after catheter ablation of atrial fibrillation

Background: Although it is well recognized that recovery of pulmonary vein (PV) conduction is common among patients who fail atrial fibrillation (AF) ablation, little is known about the precise time course of recurrence.
Objective: To determine the incidence and time course of early recurrence of conduction after PV isolation during AF ablation.
Methods: The patient population was composed of 14 consecutive patients (9 men [64%]; age 56 ± 7 years) with AF who underwent radiofrequency catheter ablation via circumferential ablation with PV isolation, determined by a circular mapping catheter. After successful isolation of the PVs, repeat circular electrode recordings from each PV were obtained at 30 and 60 minutes.
Results: After complete isolation of all PVs, early PV recurrence was observed in 13 (93%) patients and 26 veins (50%). Seventeen veins (33%) showed a first recurrence at 30 minutes, while nine veins (17%) showed a first recurrence at 60 minutes.
Conclusion: The results reveal an extremely high rate of early recurrence of PV conduction following AF ablation. It is particularly notable that about one-fifth of the veins remained isolated at 30 minutes, but subsequently developed recurrence between 30 and 60 minutes. Of the veins that showed early recurrence, one-third developed a first recurrence at 60 minutes. These findings suggest that AF ablation procedures should incorporate a 60-minute waiting period after initial isolation in order to detect early recurrence of conduction.     

Workup and Management of Patients With Paradoxical Low-Flow,Low-Gradient Aortic Stenosis

About 60% of patients with paradoxical low-flow, low-gradient (PLF-LG) aortic stenosis (AS) have a severe disease that justifies aortic valve replacement (AVR). The first step in patients with symptomatic PLF AS should be to rule out measurement errors and treat hypertension. The second step is to distinguish pseudo-severe from true severe AS (TSAS). The third step is to select the optimal treatment modality at the right time. Regarding the second step, projected aortic valve area calculated using stress echocardiography is superior to traditional severity criteria (AVA <?1.0 cm² and mean gradient ≥?40 mmHg) to unmask TSAS and predict outcomes. Aortic valve calcification score quantitated by computed tomography is helpful to identify TSAS by applying thresholds of 2000 and 1200 AU, respectively, for men and women. This modality should be considered, particularly if stress echocardiography is either not feasible or inconclusive. Once AS severity is confirmed, a risk stratification based on symptomatic status and the importance of left ventricular (LV) systolic impairment will guide therapeutic decision. Symptomatic assessment should not solely rely on patient-reported symptom status, but rather include an objective exercise test. The presence of symptomatic PLF-LG TSAS is a class IIa indication for AVR in the guidelines. In asymptomatic patients, a markedly reduced stroke volume, the presence of myocardial fibrosis by cardiac magnetic resonance imaging, a poor longitudinal LV function as assessed by speckle tracking echocardiography, and/or a moderate to severe LV diastolic dysfunction are predictors of poor outcome in PLF-LG patients and may indicate the need of early AVR. The type of AVR should be discussed within a multidisciplinary team, bearing in mind that transcatheter AVR (TAVR) is superior to medical treatment in inoperable patients. Furthermore, TAVR may be a useful alternative to surgical AVR (SAVR) in high-risk patients. Nevertheless, the potential benefits of TAVR, including the lower risk of severe patient-prosthesis mismatch, should be weighed against the risk of paravalvular regurgitation, which is likely poorly tolerated by patients with PLF-LG who often harbor a small and non-compliant LV cavity.     

Increased risk of osteoporosis and fracture in women with systemic sclerosis: A comparative study with rheumatoid arthritis

Objective

To investigate whether women with systemic sclerosis (SSc) have an increased risk of osteoporosis (OP) and related fractures compared to a high‐risk population with rheumatoid arthritis (RA) and also healthy controls, and to determine putative specific OP and fracture risk factors.

Methods

We performed a cross‐sectional study with successive inclusion of age‐matched healthy women and women with SSc and RA. Risk factors for OP and fracture were collected for all patients. Bone mineral density (BMD) was systematically measured at the lumbar spine and total hip region with dual x‐ray absorptiometry.

Results

We included 71 women with SSc, 139 women with RA, and 227 healthy women. The prevalence of OP and fracture was similar in SSc and RA, and was for both diseases higher than in healthy controls (OP: 30% in SSc, 32% in RA, and 11% in controls; fracture: 35% in SSc, 33% in RA, and 10% in controls). Multivariate analysis identified age as a risk factor of OP in SSc. Age and low 25‐hydroxyvitamin D (25[OH]D) levels were recognized as risk factors of fracture in SSc. In comparison, age and corticosteroid treatment were associated with OP in RA. Multivariate analysis confirmed age, OP, and low 25(OH)D levels as independent risk factors of fractures in RA.

Conclusion

The prevalence of OP and fracture in SSc was increased compared to healthy women and reached the high prevalence associated with RA. Age and vitamin D deficiency were identified as risk factors of fracture in SSc. Therefore, increasing the awareness and performance of BMD measurements together with the vitamin D supply in patients with SSc is warranted.     

Triaging in pulmonary embolism

Risk stratification of patients with pulmonary embolism represents an important step and may help to guide initial therapeutic management. Pulmonary embolism can be stratified into several groups, with different risk of early death or complications based on the presence of several risk factors. High-risk pulmonary embolism is defined by shock or peripheral signs of hypoperfusion. It is a life-threatening emergency with high short-term mortality (>25%) requiring specific therapeutic strategy with inotropic agents and fibrinolysis. In normotensive patients with pulmonary embolism, the presence of right ventricular dysfunction assessed by echocardiography or myocardial injury based on elevated levels of biomarkers, is associated with an intermediate risk of early death. These patients require close monitoring, and the role of thrombolytic treatment is currently assessed in a large trial. Lastly, patients with normotensive pulmonary embolism and without right ventricular dysfunction or myocardial injury have a low risk of death and complications. These patients may be candidates for home treatment. Several scores combining these risk factors have been described.