Category Archives: AMM 2013, Volume 59, Number 6

The Prognostic Impact of the Karyotype in Patients with Acute Lymphoblastic Leukemia

Bănescu Claudia1, Benedek I2, Duicu Carmen3, Demian Smaranda4, Macarie I4, Voidăzan S5, Dobreanu Minodora6

1 Department of Genetics, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
2 Hematology Clinic 2, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
3 Pediatric Clinic, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
4 Hematology Clinic 1, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
5 Department of Epidemiology, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
6 Department of Clinical Biochemistry, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

Background and Objective: Acute lymphoblastic leukemia (ALL), is characterized by uncontrolled precursor lymphocyte proliferation. Chromosomal abnormalities have been found in 60–85% of ALL patients. The aim of our work was to determine the chromosomal abnormalities and to evaluate the prognostic value of cytogenetic findings in a cohort of ALL patients.
Method: The study included 36 patients with ALL from Hematology Clinics Tg. Mures, Romania. Cytogenetic analyses were done on bone marrow cultures according to standard methods.
Results: We identified 22 cases (71%) with cytogenetic abnormalities. In our study, the frequency of chromosomal abnormalities was 50% in children and 85% in adults. The most common clonal karyotype aberration in ALL patients was numerical chromosomal abnormalities, detected in 62% of cases. Structural chromosomal abnormalities were found in 38% of our cases and were represented by translocations and deletions. We included our patients in different cytogenetic risk groups: 2 patients in low cytogenetic risk group, 23 in intermediate cytogenetic risk and 6 in severe cytogenetic risk group. We did not find a statistically significant difference in the median overall survival (OS) between the three cytogenetic risk groups (p = 0.863).There was a significantly better OS in patients who had a normal karyotype compared to those who had chromosomal abnormalities (p = 0.008).
Conclusion: Our study highlights the importance of cytogenetic analysis as an important prognostic factor in ALL

Keywords: , ,
Full text: PDF

Considerations Regarding Age at Surgery and Fistula Incidence Using One- and Two-stage Closure for Cleft Palat

Stoicescu Simona1,2, Enescu DM1,2

1 Plastic and Reconstructive Surgery Chair, “Grigore Alexandrescu” Emergency Clinical Hospital for Children, Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
2 Clinic of Plastic Surgery, Reconstructive Microsurgery and Burns, “Grigore Alexandrescu” Emergency Clinical Hospital for Children, Bucharest, Romania

DOI: 10.2478/amma-2013-0069

Introduction: Although cleft lip and palate (CLP) is one of the most common congenital malformations, occurring in 1 in 700 live births, there is still no generally accepted treatment protocol. Numerous surgical techniques have been described for cleft palate repair; these techniques can be divided into one-stage (one operation) cleft palate repair and two-stage cleft palate closure. The aim of this study is to present our cleft palate team experience in using the two-stage cleft palate closure and the clinical outcomes in terms of oronasal fistula rate.
Material and methods: A retrospective analysis was performed on medical records of 80 patients who underwent palate repair over a five-year period, from 2008 to 2012. All cleft palate patients were incorporated. Information on patient’s gender, cleft type, age at repair, one- or two-stage cleft palate repair were collected and analyzed.
Results: Fifty-three (66%) and twenty-seven (34%) patients underwent two-stage and one-stage repair, respectively. According to Veau classification, more than 60% of them were Veau III and IV, associating cleft lip to cleft palate. Fistula occurred in 34% of the two-stage repairs versus 7% of one-stage repairs, with an overall incidence of 24%.
Conclusions: Our study has shown that a two-stage cleft palate closure has a higher rate of fistula formation when compared with the one-stage repair. Two-stage repair is the protocol of choice in wide complete cleft lip and palate cases, while one-stage procedure is a good option for cleft palate alone, or some specific cleft lip and palate cases (narrow cleft palate, older age at surgery).

Keywords: , , ,
Full text: PDF

High Calcium Score Predicts Severity of the Culprit Lesions in Patients with Acute Coronary Syndromes

Jakó Beáta1, Benedek Theodora2, Suciu Zsuzsanna2, Benedek I2

1 Clinic of Cardiology, County Emergency Clinical Hospital, Tîrgu Mureș, Romania
2 Clinic of Cardiology, Discipline of Internal Medicine 6, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

DOI: 10.2478/amma-2013-0068

Introduction: Coronary calcium score, as determined by Angio CT multislice, has been proved to represent a reliable parameter which reflects the global cardiovascular risk. We aimed to study the characteristics of culprit lesions in Acute Coronary Syndrome (ACS) patients with low versus high calcium score.
Material and methods: A total of 45 patients with ACS underwent 64-slice CCTA. Group 1 – 19 patients with Ca score below 400HU, Group 2 – 26 patients with calcium score >400HU. In all patients a complex CT analysis of the culprit plaque was performed.
Results: There were no significant differences between the groups at baseline as regard to age, gender, cardiovascular risk factors (p>0.2). In patients with high calcium score, culprit lesions presented a significantly larger amount of plaque burden than in patients with low calcium score (82.8ml versus 131.81ml, p <0.0001). This was also true when assessing in a subanalysis different cut-off points for definition of relatively higher calcium score (89.66ml versus 137.93ml, p <0.0001, for calcium score cut off 600HU, 97.88ml versus 137.57ml, p<0.0001 for calcium score cut-off of 1000HU).
Conclusion: Our data shows that patients with high calcium score who develop an acute coronary syndrome present larger atheromatous plaque than those with low calcium scores, and theseverity of the culprit lesions correlates with global cardiovascular risk as expressed by a high calcium score.

Keywords: , ,
Full text: PDF

Evaluation of Anthropometric and Biochemical Status in Children with Nutritional Deficiency

Man Lidia1, Pitea Ana Maria1, Chinceșan Mihaela Ioana1, Man A2, Mărginean Oana1, Baghiu Maria Despina1

1 Pediatric Clinic I, University of Medicine and Pharmacy, Tîrgu Mureș, Romania
2 Department of Microbiology, Laboratory Medicine, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

DOI: 10.2478/amma-2013-0067

Objective: To evaluate the anthropometric and biochemical status of children with nutritional deficiency.
Methods: We have conducted a prospective study on 226 children admitted in Pediatric Clinic I, divided into two groups: one group of 49 children with nutritional deficiency (body-mass-index < -2SD) and one control group (177 children). We have followed demographic data, anthropometric indices evaluated as standard deviations (weight, height, middle upper-arm circumference, tricipital skinfold), biochemical proteic status (Insulin-like Growth Factor 1 IGF-1, albumin, total proteins). We also followed parameters of general nutritional biochemistry.
Results: The mean age for underweight children was 5.8 years, lower than in the control group. The weight of the nutritional-deficient group was significantly lower than in the control group, unlike the height (p <0.001). We have also found significant differences in body-mass-index, middle upper-arm circumference and tricipital skinfold, all of them with low SDs in children with nutritional deficiency. Regarding the biochemical markers, we have found significantly higher values of transaminases (p <0.001) and lower IGF-1 (p = 0.02) and total proteins (p = 0.013) in nutritional-deficient group. Most IGF-1 values were in normal range in both groups, but with a higher percent of low values in nutritional deficient children (37.5% vs 14.2%, p = 0.0046). There were no significant differences in height, albumin, cholesterol, triglyceride and glucose levels between the two groups.
Conclusions: The anthropometric measurements are the most precise methods in evaluating the nutritional status. Among the studied biochemical markers, IGF-1, total proteins and transaminases are correlated with nutritional deficiencies.

Keywords: , , , ,
Full text: PDF

Evaluation of the Skeletal Maturation Using Lower First Premolar Mineralisation

Mártha I. Krisztina1, Ogodescu A2, Gyergyay Réka3, Burján Zsuzsa4

1 Department of Pediatric Dentistry and Orthodontics, Faculty of Dental Medicine, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
2 Department of Paedodontics-Orthodontics, School of Dentistry, “Victor Babeș” University of Medicine and Pharmacy, Timișoara, Romania
3 PhD student, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
4 Student, University of Medicine and Pharmacy, Tîrgu Mureş, Romania

DOI: 10.2478/amma-2013-0066

Background: Dental age assessment is very useful in the pediatric dentist’s and orthodontist’s everyday practice. The eventual lack of correlation between dental age, skeletal maturation and chronological age can influence treatment procedures regarding mostly their application time. The aim of our study was to investigate the relationship between dental age based on the calcification stages of the first lower premolar (PM1i) and skeletal maturity stages using cervical vertebrae (C2, C3, C4) among Romanian individuals and to determine the clinical value of the first premolar as a growth evaluation index.
Material and methods: In a sample of 30 patients (13 males, 17 females) ranging in age from 9 to 15 years (mean age 11.2 years) we examined the orthopantomography radiographs (OPT) and lateral cephalometric radiographs of each case.
Results: The biological development of girls is about 1.5 years more advanced than in boys. When the Demirjian Index was at stage F, then CVS was at stage 3.4, which means that in developmental stage “F” (according to Demirjian index) premolars are indicators of the optimal time for orthodontic treatment. We found a significant correlation (R = 0.871, p <0.001) between CVM and Demirjian’s index.
Conclusions: The correlation shown in this study will allow clinicians to use mandibular first premolar as an adjunctive tool to assess adolescent growth spurt, combined with the evaluation of the cervical vertebrae. The results also show the usefulness of the assessment of the development of dental status as a simple diagnostic test to determine the biological age of the population.

Keywords: , , ,
Full text: PDF

Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

Blesneac Cristina¹, Benedek Theodora², Togănel Rodica¹, Benedek I²

¹ Department M4, IIIrd Pediatric Discipline, University of Medicine and Pharmacy, Tîrgu Mureş, Romania
² Clinic of Cardiology, Department M3, University of Medicine and Pharmacy, Tîrgu Mureş, Romania

DOI: 10.2478/amma-2013-0065

Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited.
Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy.
Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%). Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy.
Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background.

Keywords: , ,
Full text: PDF

Surrogate Measures of Insulin Resistance in Middle-aged Non-diabetic Subjects

Csép Katalin

Department of Genetics, University of Medicine and Pharmacy, Tîrgu Mureș, Romania

DOI: 10.2478/amma-2013-0064

Objective: Insulin resistance has been shown to be a risk factor for type 2 diabetes and cardiovascular disease. The assessment of insulin sensitivity in the clinical practice, however, faces several difficulties. The study proposes to analyze surrogate measures of insulin resistance based on fasting insulin levels in central Romania, and check whether the diagnosis of the metabolic syndrome is an adequate strategy to identify middle-aged persons with reduced insulin sensitivity.
Methods: Anthropometric measurements, metabolic profile, and surrogates measures of insulin sensitivity (GIR, HOMA, QUICKI, FIRI, Belfiore, Bennett, Raynaud, McAuley index) based on fasting insulin levels were assessed in 233 non-diabetic middle aged subjects.
Results: Cutoff values, determined as the lowest quartile of insulin sensitivity for fasting insulin, HOMA, IRI (1/QUICKI), FIRI and Belfiore’s, Bennett’s, Raynaud’s and McAuley’s insulin sensitivity indices were 10.49 mU/L, 2.1, 3.01, 2.32, and 0.03, 1.34, 3.81, 6.29, 5.82. Components of the metabolic syndrome showed moderate but significant correlations with the surrogate measures of insulin resistance (r = 0.22–0.56, p <0.05). HOMA-IR and McAuley indices were the best predictors of clustered cardiometabolic risk factors (AUC – 0.83, 0.81 and 0.82). The metabolic syndrome diagnosis performed well in identifying patients with reduced insulin sensitivity (McAuley 2: sensitivity – 0.78, specificity – 0.84).
Conclusion: Fasting insulin derived insulin sensitivity indices may help the recognittion of insulin resistant states predicting cardiometabolic disorders. Actively looking for insulin resistance by these simple indices, or by diagnosing the metabolic syndrome, those at increased risk can be recognized.

Keywords: ,
Full text: PDF