Emergency Pericardiocentesis in Children

Cardiac tamponade is a life-threatening condition characterized by compression of the heart due to pericardial accumulation of different types of fluid and requires prompt diagnosis and immediate therapeutic intervention. Echocardiography is the most useful imaging technique to diagnose the cardiac tamponade and to evaluate the size, location, and hemodynamic impact of the pericardial effusion. Emergency pericardiocentesis is the procedure used for the aspiration of the fluid from the pericardial space in patients with significant pericardial effusion which determines hemodynamic compromise (cardiac tamponade). Emergency pericardiocentesis in children is performed under local anesthesia and is echocardiographic-guided. The first step of echocardiographic-guided pericardiocentesis is to assess the dimension and distribution of the pericardial fluid and the optimal trajectory of the needle in order to efficiently evacuate the pericardial fluid. The transducer is situated 3–5 cm from the parasternal border and the trajectory of the needle is established by the angle of the transducer. The needle is positioned between the xiphoid process and the left costal cartilages and is advanced, while a continuous aspiration is performed. It is important to avoid the neighboring vital organs (heart, liver, lung, internal mammary artery, and the intercostal vascular bundle). Complications which can occur are as follows: dysrhythmias, puncture of coronary artery or mammary artery, hemothorax, pneumothorax, pneumopericardium, and hepatic injury

Marshallov sindrom – izazov u kliničkoj praksi

Marshall syndrome (periodic fever, adenitis, pharyngitis, aphthae, PFAPA syndrome) is characterized by recurrent episodes of fever associated with aphthous stomatitis, cervical adenitis or pharyngitis. Although it is the most common cause of recurrent fever in children, the diagnosis is rarely established. The aim of this study was to describe a group of Romanian children with Marshall syndrome. In seven children with PFAPA, the following methods were used: patient history, clinical examination, and determination of erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and tumor necrosis factor α (TNF-α). The treatment consisted in prednisone at a dose of 1 mg/kg. The age at onset was 2.2 years and at diagnosis 4.8 years. The mean interval between episodes was 3.1 weeks and the duration per febrile episode was 3.7 days. The patients presented with pharyngitis (100%), adenitis (100%) and aphthous lesions (57.1%). The mean ESR value was 31 mm/h, CRP 7.8 mg/dL and leukocytes 17700/mm3 . TNF-α remained elevated between febrile episodes. Six patients treated with prednisone had favorable evolution. In conclusion, PFAPA should be suspected in children with periodic fever associated with pharyngitis, cervical adenitis and aphthous stomatitis.Marshallov sindrom (periodična groznica, adenitis, faringitis, afte, sindrom PFAPA) obilježen je opetovanim epizodama groznice udružene s aftoznim stomatitisom, cervikalnim adenitisom ili faringitisom. Iako je to najčešći uzrok opetovane groznice u djece, ova se dijagnoza rijetko postavlja. Cilj ovoga ispitivanja bio je opisati skupinu rumunjske djece s Marshallovim sindromom. U sedmoro djece s PFAPA primijenjene su sljedeće metode: anamneza, klinički pregled te određivanje sedimentacije eritrocita (SE), C-reaktivnog proteina (CRP) i faktora tumorske nekroze alfa (TNF-α). Liječenje je provedeno prednisonom u dozi od 1 mg/kg. Dob pri nastupu PFAPA bila je 2,2 godine, a pri dijagnozi 4,8 godina. Srednja vrijednost intervala među epizodama PFAPA bila je 3,1 tjedan, a trajanja pojedine febrilne epizode 3,7 dana. Bolesnici su imali faringitis (100%), adenitis (100%) i aftozne promjene (57,1%). Srednja vrijednost SE bila je 31 mm/h, CRP 7,8 mg/dL i leukocita 17700/mm3 . TNF-α je ostao povišen između febrilnih epizoda. Povoljan ishod zabilježen je u šestoro bolesnika liječenih prednisonom. U zaključku, na PFAPA treba posumnjati u djece s periodičnim groznicama udruženim s faringitisom, cervikalnim adenitisom i aftoznim stomatitisom

Association between Internet Use Behavior and Palpitation among Adolescents: A Cross-Sectional Study of Middle School Children from Northwest Romania

Purpose: The use of the internet is a tool and media literacy has become an essential skill among adolescents. Related to this behavior, some adolescents evoke cardiovascular effects. The purpose of this study was to explore a possible correlation between internet use behavior and occurrence of palpitations and related symptoms among a representative cohort of adolescents from the north-west region of Romania. Method: The study included students of seven middle schools from Northwest Romania. Participants completed an anonymous questionnaire consisting of 18 questions about internet use. Results: In total, 1147 students responded to the study. Mean duration of daily internet usage was 2.57 h during school time and 3.57 h during the holidays. A total of 77% of adolescents had more than one symptom related to internet use, and 11% of them reported palpitations and related symptoms. We found an independent relation between palpitation and urban background, palpitations and the internet usage time interval 20:00–24:00, and palpitations and tobacco smoking. Strong heartbeats were independently associated with the time interval 12:00–16:00, tobacco smoking, and energy drink consumption. Conclusion: In our cohort, the most important factors associated with the occurrence of palpitations and related symptoms were the timeframe of internet usage and smoking

Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians

Tuberous sclerosis is a rare genetic disorder involving mainly the nervous and cardiovascular systems. The early recognition of the cardiovascular manifestations by the pediatrician allows an appropriate management and therefore enhances the quality of life of the affected children. Cardiac rhabdomyomas and the associated arrhythmias are the first cardiac features and they might represent a diagnosis challenge given their wide spectrum of clinical manifestations. We aimed to provide the paediatric practitioners with current knowledge regarding the cardiovascular complications in children with tuberous sclerosis. We overviewed the antenatal and postnatal evolution of cardiovascular manifestations, the systematic screening and long-term follow-up strategy of cardiac rhabdomyomas and arrhythmias in children with tuberous sclerosis

Mucopolysaccharidosis type I - Clinical and genetic characteristics of Romanian patients

Background: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α-L-iduronidase (IDUA), which leads to the accumulation of partially digested glycosaminoglycans (dermatan sulfate and heparan sulfate) in the lysosomes and induces multisystemic alteration. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I. To date, more than 290 IDUA mutations have been reported. The purpose of this study was to present the clinical and genetic characteristics of Romanian MPS I syndrome patients and their genotype-phenotype correlation

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers

A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects

Congenital heart defects (CHDs) have had an increasing prevalence over the last decades, being one of the most common congenital defects. Their etiopathogenesis is multifactorial in origin. About 10–15% of all CHD can be attributed to copy number variations (CNVs), a type of submicroscopic structural genetic alterations. The aim of this study was to evaluate the involvement of CNVs in the development of congenital heart defects. We performed a cohort study investigating the presence of CNVs in the 22q11.2 region and GATA4, TBX5, NKX2-5, BMP4, and CRELD1 genes in patients with syndromic and isolated CHDs. A total of 56 patients were included in the study, half of them (28 subjects) being classified as syndromic. The most common heart defect in our study population was ventricular septal defect (VSD) at 39.28%. There were no statistically significant differences between the two groups in terms of CHD-type distribution, demographical, and clinical features, with the exceptions of birth length, weight, and length at the time of blood sampling, that were significantly lower in the syndromic group. Through multiplex ligation-dependent probe amplification (MLPA) analysis, we found two heterozygous deletions in the 22q11.2 region, both in patients from the syndromic group. No CNVs involving GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes were identified in our study. We conclude that the MLPA assay may be used as a first genetic test in patients with syndromic CHD and that the 22q11.2 region may be included in the panels used for screening these patients