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  • Author: Carmen Duicu x
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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.

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

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

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.