A5011564321- Lysosomal Storage Disorders Research
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Prenatal Screening and Diagnostics
- Growth Hormone and Insulin-like Growth Factors
- Studies on Chitinases and Chitosanases
- Williams Syndrome Research
- Genomic variations and chromosomal abnormalities
- Hearing, Cochlea, Tinnitus, Genetics
- Diet and metabolism studies
- Cancer, Hypoxia, and Metabolism
- Glycosylation and Glycoproteins Research
- Aortic Disease and Treatment Approaches
- Genetics and Neurodevelopmental Disorders
- Connexins and lens biology
- Genomics and Rare Diseases
- Vestibular and auditory disorders
- Connective tissue disorders research
- Cellular transport and secretion
- Urological Disorders and Treatments
- Cleft Lip and Palate Research
- Ear Surgery and Otitis Media
Iuliu Hațieganu University of Medicine and Pharmacy
2013-2025
Clinical Emergency Hospital Bucharest
2016-2022
Spitalul Clinic Județean de Urgență Cluj-Napoca
2012-2021
Spitalul Clinic de Urgență pentru Copii Cluj-Napoca
2017
University of Agricultural Sciences and Veterinary Medicine of Cluj-Napoca
2010
Background: This research aimed to compare the traditional in-solution digestion (inSol) and solid-phase-enhanced sample preparation (SP3) methods for salivary proteomics, with a focus on identifying mucopolysaccharidosis (MPS)-relevant proteins. Methods: Saliva samples were processed under multiple analytical conditions, including two precipitation (methanol or incubation trichloroacetic acid), paired either Rapigest 8M urea/2M thiourea (UT) solubilization buffers. Additionally, SP3 method...
It remains controversial if glucocorticoid replacement therapy impairs bone mineral density (BMD) in young patients with 21-hydroxylase deficiency. We aimed to analyze the impact of treatment variables, phenotype and genotype on BMD metabolism these patients.Cross-sectional study.Twenty-eight Caucasian classical deficiency (5-39 years). Clinical parameters, hormonal status, osteocalcin (OC), C-terminal telopeptide type I collagen (CTX), lumbar (Z-scores) were assessed. Cumulative mean...
Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome.To characterize discrete alterations lipid and carbohydrate metabolism in children young adults with classic 21HD, which could predict early atherogenesis.Twenty-seven Caucasian patients 21HD (4-31 years); 27 sex-, age- BMI-matched controls. Clinical parameters, hormonal status genotype were assessed all patients. Lipid including relative (%) absolute (mg/dl) small-dense low-density lipoproteins...
Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common especially because great phenotypic variability lack firm diagnostic criteria. Aim: Our first aim was assess clinical cytogenetic characteristics growth rate hormone (GH)-treated patients compared those with spontaneous growth. second analyze Y chromosomal sequences. Materials...
Marfan syndrome (MFS) is an autosomal dominant inherited disease of the connective tissue with multiorgan involvement (skeleton, cardiovascular, eyes, skin, lungs). Cardiovascular variable and represents major cause morbidity mortality in syndrome. We provide a comprehensive description cardiovascular manifestations syndrome, genotype-phenotype correlations assessment abnormalities complications.
Background & Aim: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) could possibly be associated ABCG5/ABCG8 gene variants. We aimed investigate the prevalence CL in Caucasian adult patients GD1 possible risk factors, including variants genes.
 Methods: 61 (38 female/23male), aged 18-62 years healthy subjects matched for age, gender BMI, without CL, comparison profiles....
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 partially digested glycosaminoglycans (GAGs) in lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness contractures; heart, lung, vision, hearing disability; profound neurological decline).The purpose this study present clinical genetic...
The ultrasonographic (US) evaluation of the median nerve at level carpal tunnel outlet (CTO) and mid forearm in pediatric patients with mucopolysaccharidosis type II (MPS II) comparison healthy subjects.Fifteen children MPS 44 were included study they divided into three age groups. cross-sectional area, appearance nerve, ratio areas evaluated by US.At CTO mean area was increased all groups compared correspondent differences statistically significant (p<0.01). At only for first group. Other...
Abstract Introduction. At the moment there is not enough data in Romania about incidence of main genetic mutations which can cause hearing loss. Objective. The current research aims to determine on a representative sample prevalence two genes GJB2 -c.35delG and p.W24X- GJB6 -del(GJB6-D13S1830), del(GJB6-D13S1854) respectively - patients with congenital nonsyndromic sensorineural loss (CNSHL). Methods: group included 179 children CNSHL. evaluation consist in: a.Clinical, laboratory imagistic...
Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following protocol testing.This prospectively investigated total 267 who presented Clinical Emergency Hospital for Children Cluj-Napoca between January 2012 and December 2019. Each patient was clinically, biochemically, morphologically evaluated. As first intervention, test included karyotype + SRY testing. A high value 17-hydroxyprogesterone found 39...
The lysosomal storage diseases are a group of monogenic with multisystemic impairment and chronic progression induced by the deficiency acid hydrolases involved in breakdown various macromolecules. accumulation occurs macrophages reticule-endothelial system causes enlargement functional impairment. mainly organs brain, liver, spleen, bones, joints, airways, lungs, heart. aim this study was to evaluate early symptoms, signs delay diagnosis different diseases.The medical documentation 188...
The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants carrier frequencies as part our study summarize previously reported ones for the Romanian population. In total, 284 unrelated children with bilateral congenital NSHL were enrolled between 2009 2018 in northwestern Romania. A tiered diagnostic approach was used: all subjects tested c.35delG, c.71G>A deletions GJB6 30) using...
Abstract Background Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age genetic etiology being often involved. The aim this study was to determine clinically relevant copy number variants patients diagnosed with global developmental delay/intellectual our using chromosomal microarray analysis. Methods We analyzed 189 disability, presented Clinical Emergency Hospital for Children, Cluj-Napoca. were...
Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement rare and refers to pulmonary hypertension (PH), valvular abnormalities myocardial infiltrative damage. The aim this study was evaluate cardiac in a group Romanian GD patients. Phenotypic genotypic characterisation carried out 69 patients with type 1. Annual echocardiography electrocardiography were performed assess pressure, morphology function valves...
Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim this study is to observe frequency recurrent copy number variations (CNVs) diagnosed GDD/ID, using MLPA technique.A total 501 paediatric GDD/ID were analysed SALSA probemix P245 Microdeletion Syndromes-1A, and technical steps performed according MRC Holland general protocol.Twenty-five (5%) microdeletion/microduplication syndrome. Amongst...
Childhood obesity progresses to metabolic disturbances via low-grade inflammation. Identifying novel molecules that reflect the activity of immune responses is critical in understanding its underlying pathogenesis. Our exploratory study aimed evaluate change chitotriosidase (CHIT1) plasma according Body Mass Index (BMI)-for-age z score pediatric patients. The evaluated 68 children consisting 47.1% girls with a mean age 12.47 ± 3.71 years and 52.9% boys 11.93 3.18 years. effect most frequent...
Abstract Introduction: GAD2 gene encodes the glutamate decarboxylase enzyme which catalyses transformation of into γ-aminobutyric acid, GABA. It is suggested that some polymorphic alleles gene, such as -243A>G, have an increased transcriptional effect compared with wild type, results in increase GABA hypothalamus subsequent neuropeptide Y, thus exacerbating hunger centre and appetite. The aim this study was to observe association between -243A>G polymorphism obesity, comparatively...
Abstract To establish the frequency of c.301_302 delAG mutation Somatic assessment, hormonal test, bone age, magnetic resonance imaging pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 familial form 19 sporadic MPHD). The c.301_302delAG was detected homozygous state 10 belonging to 5 unrelated families history 3 Those presented variable hormone deficiency morphology. genotype had a high 38% (10/26), reaching 100% (7/7) group cases 16% (3/19) forms MPHD.
Gaucher disease is a autosomal recessive inherited monogenic caused by beta-glucocerebrosidase deficiency. Clinically, there are three types: type 1 (non-neuronopathic), 2 (acute neuronopathic) and 3 (chronic neuronopathic), in 92%, 1% respectively 7% of patients. Specific diagnosis has been possible Romania since 1997 enzyme replacement therapy 2002. The aim the study to present epidemiologic, clinical molecular data Romanian patients with ant their evolution. <h3>Patients methods</h3>...