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https://www.readbyqxmd.com/read/27351199/clinical-and-genetic-characteristics-of-romanian-patients-with-mucopolysaccharidosis-type-ii
#1
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
https://www.readbyqxmd.com/read/26903266/evaluation-of-neopterin-as-a-biomarker-for-the-monitoring-of-gaucher-disease-patients
#2
Cristina Drugan, Tudor C Drugan, Nicolae Miron, Paula Grigorescu-Sido, Ioana Naşcu, Cristina Cătană
OBJECTIVES: Biomarker research is an important area of investigation in Gaucher disease, caused by an inherited deficiency of a lysosomal enzyme, glucocerebrosidase. We evaluated the usefulness of neopterin, as a novel biomarker reflecting chronic inflammation and immune system activation in Gaucher disease and analysed its evolution in response to enzyme replacement therapy (ERT). METHODS: Circulating plasma neopterin levels in 31 patients with non-neuronopathic Gaucher disease were measured before and after the onset of ERT and were compared with those of 18 healthy controls...
July 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/26885414/a-novel-nonsense-mutation-of-the-agl-gene-in-a-romanian-patient-with-glycogen-storage-disease-type-iiia
#3
Anca Zimmermann, Heidi Rossmann, Simona Bucerzan, Paula Grigorescu-Sido
Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3-year-old boy from a nonconsanguineous Romanian family, who presented with severe hepatomegaly with fibrosis, mild muscle weakness, cardiomyopathy, ketotic fasting hypoglycemia, increased transaminases, creatine phosphokinase, and combined hyperlipoproteinemia...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/25581745/the-c-301_302delag-prop1-gene-mutation-in-romanian-patients-with-multiple-pituitary-hormone-deficiency
#4
Cecilia Lazea, Paula Grigorescu-Sido, Radu Popp, Marie Legendre, Serge Amselem, Camelia Al-Khzouz, Simona Bucerzan, Victoria Creţ, Mirela Crişan, Cristian Brad
OBJECTIVE: To establish the frequency of the c.301_302 delAG mutation of the PROP1 gene in Romanian patients with multiple pituitary hormone deficiency (MPHD). SUBJECTS AND METHODS: Somatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD). RESULTS: The c.301_302delAG mutation was detected in the homozygous state in 10 patients belonging to 5 unrelated families (7 patients with familial history of MPHD and 3 patients with sporadic form of MPHD)...
September 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/22976766/dynamic-changes-of-lipid-profile-in-romanian-patients-with-gaucher-disease-type-1-under-enzyme-replacement-therapy-a-prospective-study
#5
Anca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, Karl J Lackner, Cristina Drugan, Camelia Al Khzouz, Simona Bucerzan, Ioana Naşcu, Tim Zimmermann, Daniel Leucuţa, Matthias M Weber
BACKGROUND: Dyslipidemia in Gaucher disease includes reduced total, low-density lipoprotein (LDL)-, and high-density lipoprotein (HDL)-cholesterol (C). No prospective analysis of lipid profile changes in treatment-naïve patients under enzyme replacement therapy (ERT) is available. METHODS: We analyzed lipid profile changes during ERT in a prospective controlled manner. Twelve treatment-naïve patients, Gaucher disease type 1 (GD1), 29.5 ± 12.9 years, 4M/8F. Diagnosis was made by enzymatic measurement and mutational analysis...
May 2013: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/20395657/alterations-in-lipid-and-carbohydrate-metabolism-in-patients-with-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#6
Anca Zimmermann, Paula Grigorescu-Sido, Camelia AlKhzouz, Karen Patberg, Simona Bucerzan, Egbert Schulze, Tim Zimmermann, Heidi Rossmann, Hans-Christian Geiss, Karl J Lackner, Matthias M Weber
BACKGROUND: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. AIM: To characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis. PATIENTS AND METHODS: Twenty-seven Caucasian patients with classic 21HD (4-31 years); 27 sex-, age- and BMI-matched controls. Clinical parameters, hormonal status and genotype were assessed in all patients...
2010: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/20206881/baseline-characteristics-and-outcome-in-romanian-patients-with-gaucher-disease-type-1
#7
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
https://www.readbyqxmd.com/read/20096468/prevalence-of-the-c-35delg-and-p-w24x-mutations-in-the-gjb2-gene-in-patients-with-nonsyndromic-hearing-loss-from-north-west-romania
#8
C Lazăr, R Popp, A Trifa, C Mocanu, G Mihut, C Al-Khzouz, E Tomescu, I Figan, P Grigorescu-Sido
OBJECTIVE: In Central and South-Eastern European countries, the most frequent mutation types responsible for congenital nonsyndromic sensorineural hearing loss (NSHL) are c.35delG and p.W24X (15-55.8% and 2.5-4.3%, respectively). The aim of the study was to determine for the first time in Romania the prevalence of c.35delG and p.W24X mutations in patients with NSHL. MATERIAL: 75 unrelated children with NSHL from Transylvania (North-West Romania). METHODS: a...
April 2010: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/19170706/bone-mineral-density-and-bone-turnover-in-romanian-children-and-young-adults-with-classical-21-hydroxylase-deficiency-are-influenced-by-glucocorticoid-replacement-therapy
#9
Anca Zimmermann, Paula Grigorescu Sido, Egbert Schulze, Camelia Al Khzouz, Cecilia Lazea, Cristina Coldea, Matthias M Weber
OBJECTIVE: 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 and bone metabolism in these patients. DESIGN: Cross-sectional study. MEASUREMENTS: Twenty-eight Caucasian patients with classical 21-hydroxylase deficiency (5-39 years). Clinical parameters, hormonal status, osteocalcin (OC), C-terminal telopeptide of type I collagen (CTX), genotype and lumbar BMD (Z-scores) were assessed...
October 2009: Clinical Endocrinology
https://www.readbyqxmd.com/read/17703370/outcome-of-enzyme-replacement-therapy-in-patients-with-gaucher-disease-type-i-the-romanian-experience
#10
P Grigorescu Sido, C Drugan, V Cret, C Al-Kzouz, C Denes, C Coldea, A Zimmermann
AIM: This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS: 24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored...
October 2007: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/17642419/mri-findings-and-genotype-analysis-in-patients-with-childhood-onset-growth-hormone-deficiency-correlation-with-severity-of-hypopituitarism
#11
Anca Zimmermann, Jens-Peter Schenk, Paula Grigorescu Sido, Roland Pfaffle, Cecilia Lazea, Tim Zimmermann, Udo Heinrich, Matthias M Weber, Markus Bettendorf
AIM: To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD). PATIENTS: Forty-four patients with coGHD (34 M; 9.7 +/- 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n=13); multiple pituitary hormone deficiencies (MPHD) (n=17). RESULTS: Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94...
May 2007: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/16200230/evaluation-of-viral-replication-in-children-with-chronic-hepatitis-b-with-and-without-interferon-treatment
#12
COMPARATIVE STUDY
Călin Lazăr, Paula Grigorescu-Sido, Rodica Manasia, Stefan Mireştean, Cristina Skorka, Daniela Neculoiu, Geza Molnar, Stela Cocean
BACKGROUND: In chronic infection with hepatitis virus B the fact that HBeAg becomes negative does not always mean suppression of viral replication. METHOD: HBV replication was assessed in 74 patients with chronic hepatitis or viral B cirrhosis, in whom diagnosis was made according to clinical, biological, and histological criteria. The patients were divided into two groups: group I (36 patients with interferon- therapy, 3 million U/m 2/ dose, 3 doses/week over a period of 4-6 months) and group II (control group of 38 patients who did not undergo interferon therapy)...
September 2005: Romanian Journal of Gastroenterology
https://www.readbyqxmd.com/read/16046588/21-hydroxylase-and-11beta-hydroxylase-mutations-in-romanian-patients-with-classic-congenital-adrenal-hyperplasia
#13
Anca Grigorescu Sido, Matthias M Weber, Paula Grigorescu Sido, Susanne Clausmeyer, Udo Heinrich, Egbert Schulze
CONTEXT: Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. OBJECTIVE: The study aimed to perform molecular characterization in 43 Romanian patients with classical CAH forms diagnosed at the Center for Genetic Diseases of the Pediatric Clinic/University Cluj (38 with 21-hydroxylase deficiency, five with 11beta-hydroxylase deficiency), to determine the frequency of mutations in the CYP21A2 gene and attempt a genotype-phenotype correlation in patients with 21-hydroxylase deficiency...
October 2005: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/15751609/three-new-46-xx-male-patients-a-clinical-cytogenetic-and-molecular-analysis
#14
Anca Grigorescu-Sido, Udo Heinrich, Paula Grigorescu-Sido, Anna Jauch, Hans-Dieter Hager, Peter H Vogt, Ileana Duncea, Markus Bettendorf
BACKGROUND: XX males range phenotypically from completely masculinised individuals to true hermaphrodites and include a subset of SRY negative patients. The correlation between genotype (SRY+/-) and phenotype is still unclear. AIM: To report three new patients with this rare condition, one of whom was diagnosed prenatally and another was SRY negative, and to verify in our patients whether the presence of SRY results in a more masculinised phenotype. PATIENTS AND METHODS: We present two phenotypically normal XX male patients (10 and 13...
February 2005: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/12876419/growth-analysis-in-patients-with-21-hydroxylase-deficiency-influence-of-glucocorticoid-dosage-age-at-diagnosis-phenotype-and-genotype-on-growth-and-height-outcome
#15
Anca Grigorescu-Sido, Markus Bettendorf, Egbert Schulze, Ileana Duncea, Udo Heinrich
OBJECTIVE: To evaluate the impact of hydrocortisone dosage, age at diagnosis, compliance, genotype and phenotype on growth and height outcome in 21-hydroxylase-deficient patients. METHODS: We analyzed 37 patients with 21-hydroxylase deficiency (17 had completed growth, 20 still growing). Final (FH)/predicted final height (pFH) and loss of height potential related to target height (TH) were calculated and the impact of 4 hydrocortisone (HC) dosage regimens on height outcome and growth velocities was evaluated...
2003: Hormone Research
https://www.readbyqxmd.com/read/12677804/-particular-aspects-of-the-arterial-blood-supply-of-the-optic-radiations
#16
Grigorescu Sido
The purpose of this study was to point out the arterial branches that are supplying the optic radiations. The study was carried out on 100 human brains, fixed in formaldehid 10% and dissected under the surgical microscope; 20 of them were at first injected with colored nitrolac. It were observed the origin, traject, relationships and distribution of the arterial branches which supply this optic fibers. The data obtained reveal that: the anterior segment of the optic radiations receives branches from the anterior choroidal artery (100%), middle cerebral artery (83%), thalamogeniculate arteries (78%) and posterior and lateral choroidal arteries (27%); the middle segment of the optic radiations is supplied by arterial branches from the middle cerebral artery (100%), parieto-occipital artery (84%), anterior and middle temporal arteries (36%); the posterior segment of the optic radiations receives branches from the middle cerebral artery (100%) and posterior cerebral artery (100%)...
2002: Oftalmologia
https://www.readbyqxmd.com/read/12532200/helicobacter-pylori-gastritis-in-children-endoscopical-and-histological-aspects
#17
Radu Serban, Paula Grigorescu-Sido, Dan Gheban, Eva Kiss
UNLABELLED: Helicobacter pylori (Hp) infection is involved in both digestive and extradigestive diseases. Endoscopically, antral location of gastritis, as well as antral nodularity, a consequence of the development of lymphoid follicles in the mucosa of this area, are considered by some authors specific for gastritis in children. Histologically, lymphoid follicles, noticed usually in children, are considered pathognomonic. AIMS: To establish prevalence of gastritis in children and the correlation between of endoscopical and histological findings...
December 2002: Romanian Journal of Gastroenterology
https://www.readbyqxmd.com/read/12532198/results-of-interferon-treatment-in-children-with-chronic-hepatitis-b
#18
Paula Grigorescu-Sido, Lazăr Călin, Rodica Manasia, Stefan Mireştean, Victoria Creţ, Cristina Skorka, Anca Grigorescu-Sido
Many observations report a variable therapeutical response to interferon in children with chronic hepatitis B. In order to evaluate the efficiency of alpha-interferon treatment in the downregulation of viral replication and in the eradication of infection in these patients, we assessed HBeAg/HBeAb and HBsAg/HBsAb seroconversion (as well as with clinical outcome and the changes in the plasma level of aminotransferases) in 61 treated patients. The diagnosis was established by means of the usual clinical, biochemical and histopathological criteria...
December 2002: Romanian Journal of Gastroenterology
https://www.readbyqxmd.com/read/12503858/mutational-analysis-and-genotype-phenotype-correlation-in-patients-with-classic-21-hydroxylase-deficiency-from-transylvania-north-west-romania
#19
Anca Grigorescu-Sido, Egbert Schulze, Paula Grigorescu-Sido, Udo Heinrich, Tiberiu Nistor, Ileana Duncea
The regional incidence of 21-hydroxylase deficiency, its mutational spectrum and the correlation of genotype and phenotype has been studied by European, American and Latin-American groups. However, little information is known about the molecular background of the disease in patients from Central-Eastern Europe. The present study aimed to genotype a group of patients from Transylvania, the north-western part of Romania, in order to gain some insight into the molecular pattern and the genotype-phenotype correlation of congenital adrenal hyperplasia (CAH) in this region...
November 2002: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/12173027/gaucher-disease-in-romanian-patients-incidence-of-the-most-common-mutations-and-phenotypic-manifestations
#20
Cristina Drugan, Lucia Procopciuc, Gheorghe Jebeleanu, Paula Grigorescu-Sido, Jane Dussau, Livia Poenaru, Catherine Caillaud
Gaucher disease (GD) is an inherited glycolipid storage disorder resulting from the deficiency of glucocerebrosidase. It is the most frequent lysosomal storage disease in Romania, accounting for 70% of all lysosomal disorders diagnosed since 1997 in this country. The prevalence of six common mutations (N370S, L444P, R463C, 84GG, recNciI and recTL) and their phenotypic impact were studied in 20 type 1 GD patients of non-Jewish origin. Mutation analysis identified 77.8% of the GD alleles. The N370S mutation had the highest prevalence (50%), followed by the L444P (22...
September 2002: European Journal of Human Genetics: EJHG
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