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Background: The main cause of adrenal insufficiency (AI) in paediatric patients is prolonged treatment with corticosteroids. Determination of plasma cortisol (PC) during ACTH test is the most used adrenal function indicator in clinical practice. However, determination of salivary cortisol (SC), a simple test especially useful in children in order to avoid invasive procedures, can be used as an alternative technique for the diagnosis of adrenal disease. Methods: A two-year prospective study (January 2014-January 2016) in paediatric patients (2-18 years of age) treated with corticosteroids for more than fifteen days, who were investigated for suspected AI. Low-dose ACTH test was used to determine adrenal function and samples for SC and PC were obtained simultaneously in basal situation and during the test (at 30, 60 and 90 minutes). Results: 230 samples (118 PC-112 SC) of 30 studies belonging to 20 patients (4 males), mean age 10.93 years ± 3.69 SD. Pearson’s correlation coefficient showed a positive correlation between PC and SC (r = 0.618, p < 0.001). All the studies with some determination of PC higher than 18 μg/dL (n = 8) had a SC peak higher than 0.61 μg/dL with a specificity of 66.67% and a sensitivity of 93.94% (ROC analysis). Conclusion: Measurement of SC is a less invasive, easier and quicker test than PC to measure plasma free cortisol levels. In our study, a SC peak in low-dose ACTH test higher than 0.61 μg/dL was able to discriminate patients without AI, and proved to be a useful tool in the initial evaluation of children with suspected AI.Introduction The activation of the hypothalamic-pituitary-adrenal axis in response to critical illness and the resulting release of cortisol from the adrenal cortex are essential to stress adaptation. Adrenal insufficiency (AI) is described as the inability of adrenal glands to produce an appropriate hormonal secretion not only under stress but also in basal situation. Therefore, a low baseline plasma cortisol (PC) (< 5 μg/dL) and a poor cortisol response to stimulation with exogenous adrenocorticotropic hormone (peak < 18 μg/dL) are some of the defining criteria of this condition [1,2]. It is well known that the main cause of AI in paediatric patients is prolonged treatment with exogenous corticosteroids, which is an iatrogenic cause derived from the increasing complexity of paediatric pathologies and the increased use of prolonged high-dose corticosteroid therapy. In clinical practice, adrenal function is usually assessed by the total PC (determined by low-dose ACTH test). This implies the placement of a vascular access which is often a traumatic experience for children. PC includes protein-bound fraction and serum-free cortisol. The latter constitutes the biologically active form of the hormone and is responsible for glucocorticoid activity on peripheral organs. Most of the circulating cortisol is bound to plasma proteins (over 90%), such as cortisol-binding globulin (CBG) and albumin, whereas only about 10% of circulating cortisol is free. Hence, the measurement of plasma-free cortisol level has been considered more representative of adrenal function (especially in critically ill adults and children) [1,2], because some conditions, such as hypoalbuminaemia or hypoproteinaemia (frequent in critically ill patients or in patients with cirrhosis), may lead to misinterpretation of adrenal function with an overestimation of the prevalence of AI. But the direct measurement of free PC is a laboratory-dependent and time-consuming procedure that is not available for routine use. Salivary cortisol (SC) is one of the several indirect methods available to determine free PC [3], as SC levels accurately reflect free PC [4] even in cases of hypoalbuminaemia or CBG abnormality [1,5]. For this reason, in the last years, this technique (SC) has been introduced as a non-invasive tool in the diagnosis of adrenal cortical disorders, for its simplicity and applicability in the paediatric population. However, few studies to date have evaluated the usefulness of SC as a diagnostic method in children with AI. No interactions between exogenous corticoids and SC have been described [6]. The aim of the present study was to assess the usefulness of determining salivary cortisol levels as a diagnostic tool in children with suspected secondary iatrogenic AI. 

The considerable improvements in cardiac support systems technologies have not solved until now the problem of connecting the cardiac assistance devices (CAD) to external energy sources, which makes these Patients at risk of lethal infections and dependent on external batteries with few hours of autonomy. Authors illustrate and discuss the hemodynamic concepts and clinical that underlie the mechanics of the first not-motorized implantable cardiac assistance device (NICA).

A 16-year-old man with history of two weeks-flu like symptoms with intermittent fever. He came to the emergency department with 2 hours-chest pain that radiates to the back and upper extremities. At the admission he was hemodynamically stable with normal blood pressure The ECG showed sinus rhythm and ST segment elevation of 0.5 mV in all leads (Figure 1A). The cardiac enzymes were elevated (Troponin 12.19 ng/mLland creatine kinase-MB fraction 63.25 U/L). He was admitted to the Intensive Care Unit and later transferred to our medical unit to continue with study protocol. The transthoracic echocardiogram (Figure 1B) reported normal left ventricular systolic function with left ventricular ejection fraction (LVEF) 68%, global longitudinal strain -18%, TAPSE 30 mm, and normal systolic pulmonary artery pressure (30 mmHg).

Socioeconomic barriers appears to be the greatest threat to dental care apart from considering the geographic location of the population. Access to need of care becomes primary consideration and through teleconsultation it is possible to overcome these barriers. As oral cavity being gateway to entry of health problems, dental treatment becomes a pivotal in health care system. Tele medicine and Tele dentistry becomes effective in treatment of health problems, reducing the chances of late stage detection of the abnormalities. It allows us to utilize our time better and screen more patients. This article aims to provide amazing technology of Tele dentistry involving all the dental specialties to reach all the populations of the society.

We report a challenging patient with Williams syndrome and severe coarctation of the aorta. As in a few similar cases reported, several surgical and catheter interventions for recoarctation, intrastent intimal proliferation and stenosis of the left sub-clavian artery were required. Aortic patch angioplasty is planned for the future in a grower child.

Background: Current guidelines for diagnosis and management of heart failure (HF) rely on clinical findings and natriuretic peptide values, but evidence suggests that recently identified cardiac biomarkers may aid in early detection of HF and improve risk stratification. The aim of this study was to assess the diagnostic and prognostic utility of multiple biomarkers in patients with HF and left ventricular systolic dysfunction (LVSD). Methods: High-sensitivity cardiac troponin I (cTnI), N-terminal pro b-type natriuretic peptide (NT-proBNP), interleukin-6 (IL-6), endothelin-1 (ET-1), pro-matrix metalloproteinase-9 (pMMP-9), and tumor necrosis factor-alpha (TNF-α) were measured using single-molecule counting technology in 200 patients with varying stages of HF. Plasma detection with cross-sectional associations of biomarkers across all HF stages, and advanced-therapy and transplant-free survival were assessed using multivariate analysis and Cox regression analyses, respectively. Results: NTproBNP, pMMP-9, IL-6 were elevated in early, asymptomatic stages of HF, and increased with HF severity. Higher circulating levels of combined IL-6, NTproBNP, and cTnI predicted significantly worse survival at 1500-day follow-up. Cox regression analysis adjusted for ACC/AHA HF stages demonstrated that a higher concentration of IL-6 and cTnI conferred greater risks in terms of time to death, implantation of left ventricular assist device (LVAD), or heart transplantation. Conclusion: Biomarkers of inflammation, LV remodeling, and myocardial injury were elevated in HF and increased with HF severity. Patients had a significantly higher risk of serious cardiac events if multiple biomarkers were elevated. These findings support measuring NTproBNP, cTnI and IL-6 among patients with HF and LVSD for diagnostic and prognostic purposes.

Allogeneic hematopoietic cell transplantation often represents the only solution for several poor-prognosis hematologic malignancies. The curative strategy for patients with synchronous hematologic disorders is always difficult and, in most cases, ineffective. Herein, we report an unusual case of synchronous hematologic disorders successfully treated with an “ad-hoc” conditioning regimen followed by allogeneic hematopoietic cell transplantation.

Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD). Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal anesthesia, severe denutrition, right arm and axial weakness. Seven years after referral, she was unable walk and developed generalized chorea. Abnormal huntingtin gene repeat expansion confirmed the diagnosis of HD. She died 16 years after onset of dysphagia. Conclusion: Cases with both HD and ALS have already been reported but not FOSMN and HD, to our knowledge. Some FOSMN cases have been linked to ALS-related gene mutations and HD phenocopies have been associated with C9ORF72 repeat expansions. Recently, huntingtin repeat expansions were described in the ALS population. Although a chance association cannot be excluded, data from the literature are in favor of a pathogenic relationship between FOSMN and HD in this particular case. We suggest that huntingtin gene be more systematically studied in patients with FOSMN.

Bleeding diatheses due to platelet-related disorders can present challenges to treating clinicians especially in the context of peri- and post-partum patients in the obstetric setting. TARS is an inherited disorder characterised by reduced bone marrow platelet production, skeletal deformities affecting radii and other limbs; cardiac, renal, and other heterogeneous anomalies may occur. It is caused by co-inheritance of a microdeletion and a nucleotide polymorphism in the RBM8A gene on chromosome 1. Bleeding phenotype is more severe than platelet numbers might predict especially in infants but improves with age. There is minimal literature regarding impact in pregnancy and puerperium. We describe management of three pregnancies in the haematology-obstetrics clinic. As platelet counts normally decrease through pregnancy, close monitoring is required in TAR syndrome. No major bleeding was seen antenatally but two required platelet transfusion during labour. No other treatment definitely improves bleeding, although case reports of steroids claim variable success. Tranexamic acid may be helpful, and thrombopoietin agonists represent a potential future option. 

Antithrombin deficiency, although the rarest thrombophilia, carries the highest risk of thromboembolism. This risk is increased especially for pregnant women due to physiological coagulation changes in pregnancy. Therefore, in cases of positive personal and/or family history of thromboembolic events as well as recurrent pregnancy loss women should be tested for antithrombin deficiency. Antithrombin deficiency is caused by numerous mutations of serpin peptidase inhibitor clade C 1 gene (SERPINC) and is classified according to antithrombin plasma activity and antigen levels into Type I (quantitative defect) and Type II (qualitative defect). Complications during pregnancy can be divided into those regarding the mother and those concerning the fetus. The main clinical manifestation of antithrombin deficiency regarding the mother is thromboembolism occurring spontaneously or recurrently during pregnancy. Numerous major gestational complications such as miscarriage, intrauterine growth restriction or fetal death, placental abruption, preeclampsia and hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome can be linked to antithrombin deficiency. Close monitoring with early and adequate prophylaxis and treatment nowadays can mostly assure the positive pregnancy outcome for both mother and child. Prophylaxis/therapy with both low molecular weight heparin and antithrombin concentrate should start as soon as pregnancy is planned or at least as early as possible in pregnancy and continue until the end of the puerperium.