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  • Author: Carmen Gliga x
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Genetic Investigation and Clinical Aspects in a Romanian Treacher Collins Syndrome Family – A Case Report


Introduction: In approximately 96% of probands, the diagnosis of Treacher Collins Syndrome (TCS) is confirmed by molecular genetic tests. These tests can detect heterozygous mutation of TCOF1 gene (coding treacle protein) and variants of POLR1D gene (coding RNA polymerase I subunit D) with autosomal dominant inheritance, or biallelic variants of POLR1C gene (coding RNA polymerase I subunit C) and POLR1D with autosomal recessive inheritance.

Case presentation: We present a neonate proband with family history of clinical features suggestive for TCS. Our patient was investigated for copy number changes (CNCs) of TCOF1 gene using SALSA MLPA P310-B3 TCOF1 probemix to perform Multiplex Ligation-dependent Probe Amplification (MLPA), the results being normal. Dysmorphic features revealed “bird-like” face with trigonocephaly, craniosynostosis, hypoplastic supraorbital rims, underdeveloped zygomas, mandibular hypoplasia and retrognathia (mandibulofacial dysostosis). Other clinical features, like abnormal position and structure of the external ears (microtia, with a bilateral low-set ears, crumpled and malformed pinnae and aural atresia), were also observed.

Conclusion: Taking into account our results, and also data found in literature, we consider that all TCS cases, but in particular patients with specific TCS features and without CNCs, require additional investigations using sequencing techniques.

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Body Mass Index and the Relationship with Chronic Kidney Disease in a Tertiary Care Hospital in Romania


Obesity and chronic kidney disease are epidemic size. Chronic kidney disease (CKD) appears to be more common in obese, although interrelation is not supported by all authors.

Aim: The aim of the study was to investigate the effects of overweight and obesity on glomerular filtration rate (GFR) and the relationship between body mass index (BMI) and other risk factors for CKD.

Methods: This is a cross-sectional study on 627 patients admitted in a Nephrology Department between January 2007 - December 2011. Patients were divided according to eGFR in a CKD group and a non-CKD group. Patients were divided based on BMI in: normal (<25 kg/m2), overweight (≥ 25 kg/m2 and ≤30 kg/m2) and obese (>30 kg/m2). Demographical, clinical and laboratory data (serum creatinine, lipid parameters, etc) were used for the statistical analysis. The relationship between BMI (as a marker of obesity and overweight), glomerular filtration rate and other possible risk factors for chronic kidney disease was studied.

Results: 43.70% patients were obese and 33.17% overweight. CKD prevalence was 58.69%. Logistic regression analysis showed that systolic blood pressure was the main determinant of CKD in our patients.

Conclusion: Lack of association between BMI and CKD was demonstrated in our study.

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The Relationship Between Chronic Inflammation and Glucidic-Lipidic Profile Disorders in Kidney Transplant Recipients


Introduction: Chronic inflammation has a proven role in atherogenesis, lipid profile parameters being related to cytokine production. In kidney transplant recipients, interleukin 6 (IL-6) is significantly associated with graft-related outcomes and also alterations of cholesterol and triglyceride metabolism. The aim of this study was to investigate the relationship between chronic inflammation and glucidic-lipidic metabolism disorders in a group of patients with kidney transplantation as renal replacement therapy. Methods: A prospective observational study which enrolled thirtysix non-diabetic kidney transplant recipients was conducted in the Nephrology and Peritoneal Dialysis Department, County Clinic Hospital of Tirgu Mures. The study group was divided as following: recipients with serum IL-6 concentration higher than 3.8 pg/ml (group A) and IL-6 within the normal range (group B). Results: Allograft recipients with higher serum IL-6 had significant higher erytrocyte sedimentation rate(ESR, p=0.0067). Patients with over-the-range levels of IL-6 had significant higher levels of serum cholesterol and LDL-cholesterol respectively (p=0.0242 and p=0.0081). Serum Apo-B was also significant higher in Group A than Group B. Protein excretion was significant higher in patients from group A (p=0.0013). No statistical significant relationship could be proven between elevated levels of IL-6 and hbA1c, insulin and glycosuria disturbances in the two groups. Also, we found no statistical significant association between resistivity and pulsatility indices (both hilum and intragraft) or carotid intima media thickness. Conclusion: Serum interleukin 6 is related to lipid profile disorders and less to glucidic metabolism anomalies in non-diabetic kidney transplant recipients.

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Vascular Endothelial Growth Factor Insertion/Deletion gene polymorphism in patients with type 2 diabetes and diabetic peripheral polyneuropathy


The aim of this work was to study for the first time in Romania Insertion/Deletion (I/D) polymorphism of the Vascular Endothelial Growth Factor (VEGF) gene in a group of patients with established type 2 diabetes mellitus (DM) and diabetic peripheral neuropathy (DPN) compared with a control group.

This was a case-control study consisting of a group of 84 patients with type 2 DM and DPN, diagnosed by clinical neurological examination and electrophysiological nerve conduction studies and a control group of 90 healthy volunteers. For deoxyribonucleic acid (DNA) isolation, a DNA purification kit from Zymo Research was used. In vitro amplification of DNA sequences was achieved by polymerase chain reaction (PCR). Selective in vitro amplification of a DNA fragment of known sequence is based on the principle of extension of a primer (“primer and PCR amplicon”). DNA fragments were separated by gel electrophoresis. For proper viewing and interpreting of agarose gels Vilber Lourmat system was used. D allele frequency of VEGF was significantly higher in patients with diabetic peripheral neuropathy (53.57%) compared with controls (25%), p=0.0001.

There is a positive association between I/D polymorphism of VEGF gene and the presence of diabetic peripheral polyneuropathy. Our study suggests that D allele of VEGF gene is a risk factor for the occurrence of DPN.

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Research Article. Comparative Analysis of Hepcidin-25 and Inflammatory Markers in Patients with Chronic Kidney Disease with and without Anemia


Introduction: Hepcidin is a regulatory protein in iron metabolism; we do not know the role in chronic kidney disease anemia. Methods: 22 patients with CKD anemia and 15 patients with CKD without anemia were investigated. CKD anemia-inclusion criteria: over 18 years, hemoglobin ≤12 g/dl for women and ≤13 g/dl for men, no treatment for anemia 6 months before enrollment, glomerular filtration rate (eGFR) <60 ml/min/1.73m2 and stable creatinine three months before enrollment. Exclusion criteria: infection, bleeding, malignancy, systemic or liver disease, immunosuppression, renal replacement therapy. CKD without anemia-inclusion criteria: over 18 years, no anemia or treatment for anemia, CKD with stable creatinine values three months before enrollment. Exclusion criteria: medical conditions known to have a role in the development of polycythemia. Hepcidin-25 and ferritin were measured by ELISA method. Erythropoietin (EPO), tumor necrosis factor (TNF)-α, interleukin (IL)-6 were evaluated using chemiluminescent enzyme immunometric assays. Unpaired T test, Pearson correlation and multiple regression were used for statistical analysis. Results: Hemoglobin values were significantly lower in anemia group. There were no differences in terms of eGFR, age, body mass index, serum hepcidin, erythropoietin, fibrinogen, IL-6, and TNF-α between CKD patients with and without anemia. Serum hepcidin correlated positively with ferritin (r=0.45 p<0.05), TNF-α (r=0.54, p<0.05) and negatively with erythropoietin (r=-0.51, p<0.05). Multiple linear regression analysis demonstrated that TNF-α is an independent predictor of serum hepcidin in our patients (p=0.003, R=0.71). Conclusion: We found no differences in serum hepcidin, erythropoietin and inflammatory markers in non-dialysis CKD patients with and without anemia.

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Intubation-Surfactant: Extubation on Continuous Positive Pressure Ventilation. Who Are the Best Candidates?


Introduction: Respiratory distress syndrome (RDS) continues to be the leading cause of illness and death in preterm infants. Studies indicate that INSURE strategy (INtubate-SURfactant administration and Extubate to nasal continuous positive airway pressure [nCPAP]) is better than mechanical ventilation (MV) with rescue surfactant, for the management of respiratory distress syndrome (RDS) in very low birth weight (VLBW) neonates, as it has a synergistic effect on alveolar stability.

Aim of the study: To identify the factors associated with INSURE strategy failure in preterm infants with gestational age (GA) ≤ 32 weeks.

Materials and Methods: This was a retrospective cohort study, based on data collected in the Romanian National Registry for RDS patients by three regional (level III) centers between 01.01.2010 and 31.12.2011. All preterm infants of ≤ 32 weeks GA were included. Prenatal and neonatal information were compared between (Group 1), the preterm infants successfully treated using INtubation-SURfactant-Extubation on nasal CPAP (INSURE) strategy and (Group 2), those who needed mechanical ventilation within seventy two hours after INSURE.

Results: A total of 637 preterm infants with GA ≤ 32 weeks were included in the study. INSURE strategy was performed in fifty seven cases (8.9%) [Group 1] and was successful in thirty one patients (54.4%). No differences were found as regards the studied prenatal and intranatal characteristics between (Group 1) and Group 2 who needed mechanical ventilation. Group 2 preterm infants who needed mechanical ventilation within 72 hours after INSURE had significantly lower mean Apgar scores at 1 and 5 minutes and lower peripheral oxygen saturation (SpO2) during resuscitation at birth (p<0.05). Successful INSURE strategy was associated with greater GA, birth weight (BW), fraction of inspired oxygen (FiO2) during resuscitation, and an increased mean dose of surfactant but these associations were not statistically significant (p>0.5).

Conclusion: In preterm infants ≤ 32 weeks gestation, increased INSURE failure rates are associated with complicated pregnancies, significantly lower Apgar scores at 1 and 5 minutes, and lower peripheral oxygen saturation during resuscitation.

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