The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children [0.03%]
用于儿童智力障碍临床诊断的基因组微阵列分析的应用价值
Magdalena Bartnik,Barbara Wiśniowiecka-Kowalnik,Beata Nowakowska et al.
Magdalena Bartnik et al.
Introduction: Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hy...
Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease [0.03%]
神经纤维瘤病1型中的神经纤维素蛋白-NF1基因突变作为致病原因
Anna Abramowicz,Monika Gos
Anna Abramowicz
Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-a...
The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes [0.03%]
RASopathies：RAS / MAPK 通路异常的范例——选择性综合症的临床表现与分子发病机制
Natalia Bezniakow,Monika Gos,Ewa Obersztyn
Natalia Bezniakow
The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardia...
Barbara Kaczorowska-Hać,Małgorzata Myśliwiec,Elżbieta Adamkiewicz-Drożyńska et al.
Barbara Kaczorowska-Hać et al.
Iron is a micronutrient which is essential for the existence of organisms. This element participates in oxygen transport, as well as energetic, metabolic and immunologiocal processes. Disturbances of iron homeostasis lead to multiorgan dysf...
Dominika Nesteruk,Katarzyna Wertheim-Tysarowska,Jerzy Bal
Dominika Nesteruk
Cystic fibrosis is one of the most common recessively inherited monogenic disorders in the Caucasian population. The disease develops when pathogenic mutations of the CFTR gene, encoding a transmembrane conductance regulator, are present in...
[Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system] [0.03%]
无创性产前基因诊断-分析母体血管系统中胎儿来源核酸分子的方法
Sylwia Olimpia Rzońca,Jerzy Bal
Sylwia Olimpia Rzońca
Prenatal diagnosis is an important element of health care in pregnant women. Until now, prenatal testing of genetically determined diseases was invasive. Identification in maternal plasma of cell-free fetal nucleic acids (cffNA) has created...
Does long term parenteral nutrition in children have an impact on malocclusion? Preliminary report [0.03%]
长期肠外营养对儿童错颌畸形的影响？初步报告
Dorota Olczak-Kowalczyk,Ewa Krasuska-Sławińska,Mikołaj Danko et al.
Dorota Olczak-Kowalczyk et al.
Aim: To evaluate the impact of long-term partial parenteral nutrition and its complications on malocclusion in children and adolescents. Material and meth...
Impact of individual health-oriented parent education on eating and hygienic habits, oral hygiene level, and dentition condition in children with high risk of caries [0.03%]
个体健康导向的家长教育对高患龋风险儿童饮食及卫生习惯、口腔卫生状况和牙齿发育的影响
Anna Turska-Szybka,Dariusz Gozdowski,Dorota Olczak-Kowalczyk
Anna Turska-Szybka
Aim: To assess the impact of individual health-oriented parent education on eating and hygienic habits, oral hygiene level, and dentition condition in children with a high risk of caries. ...
Tamara Pawlaczyk-Kamieńska,Elżbieta Pawlaczyk-Wróblewska
Tamara Pawlaczyk-Kamieńska
The authors discuss the problem of joint inflammation based on the case of a 3 years old girl in whom the changes occurred in the lower limbs. The detailed diagnostic investigations confirmed the existence of the active focus in the oral ca...
[The use of caspofungin in extremely low birth weight preterm infants based on clinical trials and reports considering the own experience (case report)] [0.03%]
基于临床试验和报道的极低出生体重早产儿使用卡泊芬净的用药经验(病例报告)
Krzysztof Stempniewicz,Wojciech Walas,Edyta Gregorek-Pełka et al.
Krzysztof Stempniewicz et al.
In recent years, despite of significant progress in the treatment of premature infants with extremely low body weight, still a significant problem remains severe, treatment-resistant generalized infections among which the percentage of fung...