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Iulia Armean, Lorena Elena Meliț, Iunius Simu and Carmen Duicu

Abstract

Thrombophilia represents a tendency towards excessive blood clotting and the subsequent development of venous thromboembolism (VTE). VTE is a rare condition in children that comprises both deep venous thrombosis (DVT) and pulmonary embolism (PE). This paper reports the case of a 16-year-old girl, admitted to the Pediatrics Clinic No. 1, Tîrgu Mureș, Romania, for dyspnea, chest pain and loss of consciousness. Her personal history showed that she had had two orthopedic surgical interventions in infancy, two pregnancies, one spontaneous miscarriage and a recent caesarian section at 20 weeks of gestation for premature detachment of a normally positioned placenta associated with a deceased fetus. Laboratory tests showed increased levels of D-dimers. Angio-Computed Tomography (Angio-CT) showed multiple filling defects in both pulmonary arteries, establishing the diagnosis of PE. The laboratory tests were undertaken to assist in the diagnoses of a possible thrombophilia underlined a low level of antithrombin III. Antiphospholipid syndrome was ruled out and genetic tests revealed no specific mutation. Anticoagulant therapy was initiated with unfractionated heparin and afterwards subcutaneously low molecular heparin was prescribed for three months. Later it has been changed to oral therapy with acenocoumarol. The patient was discharged in good general status with the recommendation of life-long anticoagulation therapy. Thrombophilia is a significant risk factor for PE, and it must be ruled out in all cases of repeated miscarriage.

Open access

Lorena Elena Meliţ, Cristina Oana Mărginean, Anca Georgescu and Carmen Duicu

Abstract

Sepsis is a systemic inflammatory response (SIRS) characterized by two or more of the following: fever > 38.5 °C or <36 °C, tachycardia, medium respiratory frequency over two SD for age, increased number of leukocytes.

The following is a case of an eight months old, female infant, admitted in to the clinic for fever (39.7 C), with an onset five days before the admission, following trauma to the inferior lip and gum. Other than the trauma to the lip and gum, a clinical exam did not reveal any other pathological results. The laboratory tests showed leukocytosis, positive acute phase reactants (ESR 105 mm/h, PCR 85 mg/dl), with positive blood culture for Staphylococcus aureus MSSA. at 24 hours. Three days from admission, despite the administration of antibiotics (Vancomycin+Meronem), there was no remission of fever, and the infant developed a fluctuant collection above the knee joint. This was drained, and was of a serous macroscopic nature. A decision was made to perform a CT, which confirmed the diagnosis of septic arthritis. At two days after the intervention, the fever reappeared, therefore the antibiotic regime were altered (Oxacillin instead of Vancomycin), resulting in resolution of the fever. Sepsis in infant is a complex pathology, with non-specific symptoms and unpredictable evolution.

Open access

Zsuzsanna Gall, Carmen Duicu, Eva Kiss, I. Egyed-Zsigmond, Manuela Cucerea and Marta Simon

Abstract

Objectives of study: The adolescent population signifies the transitory period where the frequent occurrence of different histopathological lesions in patients with nephrotic syndrome (NS) is different from that seen in young children as well as that seen in adults. This study aimed to analyze the clinical features and histopathological spectrum of adolescent-onset NS. Material and methods: We retrospectively evaluated clinical features, biochemical investigations and histopathology of 103 children with idiopathic NS referred to the Pediatric Department, County Hospital of Târgu-Mureş. Fourteen patients with congenital-, infantil- and secondary NS were excluded from this study. Results: The patients were divided into 2 groups: in group A we included 69 patients diagnosed with NS diagnosed before 10 years-old, with a median age of 3.76±1.96 years, majority males (59.42%) and presenting the pure form of NS. On the other hand, in group B we included 20 adolescents having the median age at the onset of the disease 13.61±2.18 years, with equal distribution of the sexes and presenting the impure form in 65% of cases. The majority of the patients in both groups (68.11% and 70% respectively) responded to steroid therapy. The commonest histopathological subtype in both groups was focal segmental glomerulosclerosis. Conclusions: The incidence of nephrotic syndrome has increased in the last years. The impure form of NS is more frequent in the adolescents than in younger patients. Adolescents with impure and steroid-resistant NS at presentation have other lesions than minimal change disease. The early genetic diagnosis in NS is important for proper clinical management of the patients, prognosis and genetic counseling of the families.

Open access

Zsuzsanna Gáll, Éva Kiss, Kálmán Tory, Attila Fintha and Carmen Duicu

Abstract

Approximately 10-20% of children and 40% of adults with idiopathic nephrotic syndrome are steroid resistant and progress to end-stage renal disease requiring dialysis or renal transplantation. In these cases, renal histology typically shows focal segmental glomerulosclerosis. Mutations in NPHS1, NPHS2, WT1, CD2AP and ACTN4 genes located on different chromosomes, expressed by glomerular podocytes, have been identified in patients with steroid-resistant nephrotic syndrome.

The authors report two cases of adolescent-onset steroid-resistant nephrotic syndrome. Both cases had similar clinical and histopathological manifestations, with different prognosis and evolution due to different mechanisms leading to proteinuria: an acquired and a genetic form. The first case, a 16 year old girl presented the onset of the disease with massive, generalized edema, secondary hypothyroidism and high blood pressure. Evolution was favorable under cyclosporine therapy. The second case, a 13-years-old adolescent girl, presented an insidious onset of the disease with mild edema. Genetic testing revealed a mutation in the WT1 gene. The patient developed end-stage kidney failure eight months after the onset of the disease and following kidney transplant had a favorable evolution. Histological examination of the renal biopsy specimen showed focal segmental glomerulosclerosis in both cases.

Conclusions: Genetic forms of nephrotic syndrome do not respond to immunosuppressive therapy and may progress to end-stage renal disease, but after kidney transplantation relapse is not expected, in contrast to the immune form. The early genetic diagnosis in steroid-resistant nephrotic syndrome is time-consuming, but is important for proper clinical management of the patients, prognosis and genetic counseling of the families.

Open access

Carmen Duicu, Oana Marginean, Eva Kiss, Lilla Lőrinczi and Claudia Banescu

Abstract

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

Open access

Carmen Duicu, Gabriela Bucur, Iunius Simu, Florin Tripon and Oana Marginean

Abstract

Congenital inferior vena cava anomalies have a reduced frequency in general population, many times being an asymptomatic finding. Patients caring such anomalies are at risk to develop deep vein thrombosis. In this paper, we present 2 siblings with deep venous thrombosis and inferior vena cava abnormalities, with a symptomatic onset at similar age. The inferior vena cava abnormality was documented by an angio-CT in each case. The thrombophilic workup was negative. Patients were treated with conservative therapy: low molecular weight heparin anticoagulants converted later to oral anticoagulant with resolution of symptoms and disappearance of the thrombus. Finally, in the absence of any risk factor in a young patient admitted with deep vein thrombosis investigations to exclude inferior vena cava anomalies are mandatory.

Open access

Iulia Armean, Carmen Duicu, Cornel Aldea and Lorena Melit

Abstract

Introduction: Venous thromboembolism is a rare condition in paediatrics that included both deep venous thrombosis and pulmonary embolism. Serratia marcescens is a gram-negative bacterium that belongs to the Enterobacteriaceae family and tends to affect immunocompromised hosts.

Case report: We report the case of an 11-year-old boy, admitted in the Pediatric Clinic I from Emergency County Hospital Tîrgu Mureș, Romania with intense pain, swelling, cyanosis and claudication of the left foot. His personal history revealed a recent appendectomy. A close family was reported to have had a deep venous thrombosis. The laboratory tests, performed on the day of admission, revealed increased inflammatory biomarkers and D-dimer. Coagulation tests gave a low activated partial thromboplastin time (APTT). Doppler venous ultrasound and CT-exam established a diagnosis of deep venous thrombosis. Anticoagulant therapy was initiated, but on the tenth day of admission, the patient developed signs and symptoms of sepsis, and the blood culture revealed Serratia marcescens. After antibiotic and anticoagulant therapy, the patient progressed favourably. The patient was a carrier of the heterozygous form of Factor V Leiden.

Conclusions: The association between deep venous thrombosis and Serratia marcescens sepsis can compromise a condition in pediatric patients.

Open access

Rodica Togănel, Iolanda Muntean, Carmen Duicu, Amalia Făgărăşan, Liliana Gozar and Claudia Bănescu

Abstract

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

Open access

Boglis Alina, Rac Corina Dana, Moldovan Elena, Duicu Carmen and Bănescu Claudia

Abstract

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.

Open access

Duicu Carmen, Mărginean Cristina Oana, Pitea Ana Maria and Melit Lorena Elena

Abstract

The aim of the present study was to investigate differences regarding 24-hour blood pressure and arterial stiffness in a cohort of office normotensive obese and non-obese children and adolescents, and to evaluate correlations of these parameters with some anthropometric indices. We retrospectively evaluated ABPM records in 71 children (42 boys); 31 obese compared with 40 normal-weight children.

Results: Mean 24-hour, day-time and night-time SBP was significantly higher in the obese group than in the control group (p <0.01 during the entire period). Significantly higher AASI values were found in obese children compared to controls (0.45 vs. 0.41, p <0.05), the difference being more obvious for day-time AASI (p <0.001).

Conclusions: This research confirms that SBP and AASI are increased in obese children. AASI is a useful index of arterial stiffness that can be easily measured under ambulatory circumstances in children.