Ionela Pașcanu, Claudia Banescu, Simona Huțu, Horea Gozar and Radu Neagoe
Alina Mărginean, Claudia Bănescu, Alina Scridon and Minodora Dobreanu
It is well known that critically ill patients require special attention and additional consideration during their treatment and management. The multiple systems and organ dysfunctions, typical of the critical patient, often results in different patterns of enteral absorption in these patients. Anti-platelet drugs are the cornerstone in treating patients with coronary and cerebrovascular disease. Dual anti-platelet therapy with aspirin and clopidogrel is the treatment of choice in patients undergoing elective percutaneous coronary interventions and is still widely used in patients with acute coronary syndromes. However, despite the use of dual anti-platelet therapy, some patients continue to experience cardiovascular ischemic events. Recurrence of ischemic events is partly attributed to the fact that some patients have poor inhibition of platelet reactivity despite treatment. These patients are considered low- or nonresponders to therapy. The underlying mechanisms leading to resistance are not yet fully elucidated and are probably multifactorial, cellular, genetic and clinical factors being implicated. Several methods have been developed to asses platelet function and can be used to identify patients with persistent platelet reactivity, which have an increased risk of thrombosis. In this paper, the concept of anti-platelet therapy resistance, the underlying mechanisms and the methods used to identify patients with low responsiveness to anti-platelet therapy will be highlighted with a focus on aspirin and clopidogrel therapy and addressing especially critically ill patients.
Anca Bacârea, Claudia Bănescu, Ioan Macarie, Judit Beáta Köpeczi and Bogdana Dorcioman
Very few cases of chronic lymphocytic leukemia (CLL) presenting with extreme hyperleukocytosis are reported in the literature. We describe the case of a 66 years old woman, with newly diagnosed CLL presenting with extreme hyperleukocytosis of 774.2 x 109/liter, Rai stage III and Binet stage C. The patient has no comorbidities and the CIRS score (cumulative illness rating scale) is well below 6, with normal creatinine clearance. Some other interesting aspects related with this case are the atypical immunophenotype, the expression of Cyclin D1, and the B hepatitis viral infection, which made her diagnosis and treatment challenging. The patient was tested for NOTCH1 mutation and it was positive. There is important evidence that NOTCH1 mutations are associated with rapidly progressive disease and resistance to treatment. The distinction of CLL from mantle cell lymphoma (MCL) is not always easy because some MCLs may mimic CLL clinically, histologically, and/or phenotypically. The hepatitis B prophylaxis for viral reactivation was not available an in the end the patient was treated only with fludarabine and cyclophosphamide, without rituximab. CD200 should be introduced in the routine panel for flow cytometry to distinguish CLL from mantle cell lymphoma and NOTCH1 mutation is associated with poor prognosis and should be evaluated at diagnosis. CLL with extreme hyperleukocytosis presentation is very rare and sometimes an atypical CLL may represent a diagnostic pitfall.
Anca Meda Georgescu, Claudia Bănescu, Iudita Badea, Valeriu Moldovan, Adina Huțanu, Septimiu Voidăzan, Minodora Dobreanu and Leonard Azamfirei
Objectives: The goal of the study was to investigate the correlations between the interleukin-6 IL-6 -174 G/C and IL-6 -572 G/C gene polymorphisms and sepsis risk and severity in adult ICU patients.
Materials and Methods: We prospectively assessed 107 septic patients and divided them into two subgroups: organ dysfunction-free sepsis subgroup S (n=60) and septic shock subgroup SS (n=47). A control group of 96 healthy individuals was included. Both patients and controls underwent IL-6 -174 G/C and -572 G/C genotyping and circulating IL-6 in the study group which were measured from samples taken in the first day of sepsis diagnosis.
Results: No differences in the genotype frequencies of the two polymorphisms between study and control groups were identified. The GC genotype and C allele of IL-6 -572 G/C gene polymorphism was statistically significant more frequent in the organ dysfunction-free subgroup (p=0.01, p=0.004 respectively). No statistically significant differences for the IL-6 -174 G/C gene polymorphism were found between the two sepsis subgroups. Circulating IL-6 levels were significantly higher in the septic shock subgroup and among patients with GG genotypes of both studied polymorphisms.
Conclusion: We underline the possible role of IL-6 -572 G/C as a marker of severe evolution. There is no evidence of a direct role of IL-6 -174 G/C gene polymorphism in sepsis risk and outcome. Il-6 levels are correlated with sepsis severity but not with variant genotype of investigated IL-6 gene polymorphisms.
Adrian Man, Claudia Bănescu, Minodora Dobreanu and Cornel Fraefel
Successful experiments in molecular biology require good knowledge about various methods and protocols. In molecular biology, nucleic acid manipulation is the essence, starting with the quality of extraction and ending with several analysis assays (PCR, RT-PCR, qPCR, PCR arrays, molecular cloning, etc). Though many of these are so called “standardized”, in practice there are many variables that can influence the outcome of the experiment. Due to the importance of optimal primer design in PCR assays, we will focus on primer designing and checking software, but we also present other useful free tools that can help researchers in the molecular biology field
Boglis Alina, Rac Corina Dana, Moldovan Elena, Duicu Carmen and Bănescu Claudia
Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.
Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.
Conclusions: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.
Iolanda Muntean, Carmen Şuteu, Rodica Togănel and Claudia Bănescu
Pulmonary arterial hypertension (PAH) is a progressive disease with a complex pathogenesis. The polymorphism of the gene of multidrug resistance-1 (MDR1) has been associated with many diseases including PAH.
Objective. In this study we aimed to investigate the relevance of the MDR1 polymorphism to pediatric PAH clinical course.
Methods. A total of 40 pediatric patients with PAH (secondary to congenital heart defects or idiopathic) and 40 control subjects were enrolled. Patients with PAH were divided into 2 groups, according to their evolution: 28 patients who remained clinically stable at 12-months (non-worsening group) and 12 patients who presented clinical worsening at 12-months (worsening group). Genomic DNA was genotyped for MDR1 gene polymorphisms as follows: C1236T, G2677T and C3435T.
Results. There were no significant differences between PAH children groups (clinical worsening and non-worsening) nor between PAH children and controls in terms of frequency distribution of the three studied genotypes or alleles.
Conclusions. The MDR1 polymorphism could not be correlated with the clinical evolution of pediatric PAH patients in our study.
Cristina Blesneac, Carmen-Corina Șuteu, Claudia Bănescu, Theodora Benedek, Imre Benedek and Rodica Togănel
Background: LEOPARD syndrome is a complex dysmorphogenetic disorder of inconstant penetrance and various morphologic expressions. The syndrome is an autosomal dominant disease that features multiple lentigines, electrocardiographic changes, eye hypertelorism, pulmonary valve stenosis or hypertrophic cardiomyopathy, genital malformations, and a delayed constitutional growth hearing loss, which can be associated with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy. No epidemiologic data are available on the real incidence of LEOPARD syndrome; however, this seems to be a rare disease, being often underdiagnosed, as many of its features are mild.
Case presentation: We report the case of a 10-year-old female pediatric patient, diagnosed with obstructive hypertrophic cardiomyopathy at the age of 3 months, and recently diagnosed with LEOPARD syndrome. The patient first presented for a cardiologic examination at the age of 3 months, due to a murmur. She presented failure to thrive and psychomotor retardation, and was diagnosed with biventricular obstructive hypertrophic cardiomyopathy for which she had received high-dose beta-blocker therapy. At the age of 7 years she underwent a biventricular myectomy for relief of outflow tract obstruction, completed with another myectomy after 2 years due to progressive increase of pressure gradient in the left ventricular outflow tract. Prior to the second surgical intervention, multiple lentigines appeared on her skin, and genetic testing revealed the presence of LEOPARD syndrome.
Conclusion: LEOPARD syndrome is a rare disease, which can be very difficult to diagnose, especially based on features other than lentigines. Cardiac involvement in LEOPARD syndrome can be progressive and requires multiple medical and surgical interventions.
Carmen Duicu, Oana Marginean, Eva Kiss, Lilla Lőrinczi and Claudia Banescu
Pediatricians frequently encounter hematuria in children. One of the tardy complication of pulmonary tuberculosis, which is most characteristic and common in teenagers and middle aged, is represented by genitourinary tuberculosis. Renal tuberculosis is rare during childhood. The authors present a series of cases where the presenting symptom was gross or microscopic persistent hematuria. The diagnosis of urogenital tuberculosis was established from early-morning urine culture in all cases. In a patient with symptoms of recurrent urinary tract infection or hematuria associated with sterile pyuria the suspicion of GUTB must be considered. A delayed diagnosis of renal tuberculosis led to kidney damage and sequels of GUTB, including renal failure. Our cases report emphasizes that in case of persistent hematuria GUTB may be considered as a differential diagnosis
Rodica Togănel, Iolanda Muntean, Carmen Duicu, Amalia Făgărăşan, Liliana Gozar and Claudia Bănescu
Background: Pulmonary arterial hypertension (PAH) is an incapacitating disease even in childhood, associated with very poor prognosis. The disease is characterised by endothelial dysfunction. Two of the key endothelial mediators involved in the PAH pathogenesis are nitric oxide (NO) and angiotensinogen (AGT). Purpose of the study: to evaluate the following gene polymorphisms: endothelial nitric oxide synthase (eNOS) G894T, eNOS 4b/4a, and angiotensinogen (AGT) M235T, as well as allele frequency and their association with PAH in children. Material and methods This study included 32 children with pulmonary arterial hypertension secondary to congenital heart disease, 46 children with congenital heart disease without pulmonary arterial hypertension referred to the Pediatric Cardiology Clinic Tg.Mures and 40 healthy controls. All patients underwent a complete physical with NYHA class evaluation, echocardiographic exam and eNOS (G894T, 4b/4a) as well as AGT M235T polymorphisms determination. Results The frequency of eNOS 894T allele (p < 0.0001) was significantly higher in patients with pulmonary arterial hypertension. Conclusions Our results advocate that there is a correlation between eNOS 894T allele and pulmonary arterial hypertension in children