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Clinical and genetic characteristics of romanian

Claudiu Mărginean, Cristina Oana Mărginean, Claudia Bănescu, Lorena Meliţ, Florin Tripon, Mihaela Iancu
The present study had 2 objectives, first, to investigate possible relationships between increased gestational weight gain and demographic, clinical, paraclinical, genetic, and bioimpedance (BIA) characteristics of Romanian mothers, and second, to identify the influence of predictors (maternal and newborns characteristics) on our outcome birth weight (BW).We performed a cross-sectional study on 309 mothers and 309 newborns from Romania, divided into 2 groups: Group I-141 mothers with high gestational weight gain (GWG) and Group II-168 mothers with normal GWG, that is, control group...
July 2016: Medicine (Baltimore)
Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss, Carmencita Lucia Denes, Paula Grigorescu-Sido
BACKGROUND: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation...
June 29, 2016: JIMD Reports
L McConnell, D Cosma, D Vasilescu, J Morcuende
OBJECTIVE: Congenital clubfoot affects 1 per 1000 live births per year in Romania. To date, no epidemiological studies have been conducted in this country to assess risk factors associated with the deformity. The aim of this study was to evaluate specific environmental and socio-demographic factors that may increase the risk of an infant to be born with clubfoot. PATIENTS AND METHODS: A descriptive clinic-based study over a twelve-week period was conducted using structured questionnaires given to biological parents of clinically confirmed clubfoot and control subjects...
2016: European Review for Medical and Pharmacological Sciences
Ruxandra Simionescu, Liliana Voinea, Roxana Sfrenţ Cornăţeanu
UNLABELLED: Primary open angle glaucoma is a progressive optic neuropathy with multiple causative factors including genetic immune disregulation. TNF-alfa has pro-apoptotic effects on the retinal ganglion cells, thus being directly involved in the neurodegeneration of the optic nerve head. Our purpose was to investigate the influence on susceptibility and/or clinical and characteristics of TNF-alfa promoter polymorphism -857 C/T in Romanian patients diagnosed with POAG. METHODS: We assessed 159 Romanian subjects, 61 diagnosed with glaucoma (F/M 39/22) and 98 healthy unrelated matched controls-HC for the polymorphism -857 C/T, genotyped by Real Time PCR (Taqman SNP Genotyping Assay C_2215707_10, Applied Biosystems, USA)...
2013: Oftalmologia
Hannah Verdin, Elena A Sorokina, Françoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere
BACKGROUND: Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without anterior segment dysgenesis (ASD) is PITX3, encoding a transcription factor with a crucial role in lens and anterior segment development. Only five unique PITX3 mutations have been described, of which the 17-bp duplication c...
2014: Orphanet Journal of Rare Diseases
J P Dubey, I Hotea, T R Olariu, J L Jones, G Dărăbuş
Infections by the protozoan parasite Toxoplasma gondii are widely prevalent in humans and other animals worldwide. However, information from eastern European countries is sketchy. In many eastern European countries, including Romania, it has been assumed that chronic T. gondii infection is a common cause of infertility and abortion. For this reason, many women in Romania with these problems were needlessly tested for T. gondii infection. Most papers on toxoplasmosis in Romania were published in Romanian in local journals and often not available to scientists in other countries...
March 2014: Parasitology
Paula Grigorescu-Sido, Cristina Drugan, Camelia Alkhzouz, Anca Zimmermann, Cristina Coldea, Carmen Denes, Mircea Dan Grigorescu, Victoria Cret, Simona Bucerzan
BACKGROUND/AIM: To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). PATIENTS, METHODS: There are fifty patients (F/M - 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter...
April 2010: European Journal of Internal Medicine
Codruţa-Romaniţa Usein, Dorina Tatu-Chiţoiu, Maria Nica, Simona Adriana Ciontea, Andi-Marian Palade, Maria Condei, Maria Damian
Alarming progressive increase in the prevalence of antimicrobial resistance in Escherichia coli has been documented worldwide. Previous studies have suggested that many E. coli clinical isolates are actually low-virulence opportunists whose success derives more from antibiotic resistance than from pathogenic capability. The co-existence of ESBL production and fluoroquinolone resistance was reported as a major therapeutic challenge for E. coli infections. Considering the sparse information regarding the genetic background of virulence and antibiotic resistance of local isolates, a collection of ciprofloxacin-resistant E...
January 2008: Roumanian Archives of Microbiology and Immunology
V Belengeanu, K Rozsnyai, S Farcaş, I Velea, J P Fryns
Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short stature and visceral abnormalities. The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition...
2005: Genetic Counseling
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