Neuroimaging results, short-term assessment of psychomotor development and the risk of autism spectrum disorder in extremely premature infants (≤28 GA) - a prospective cohort study (preliminary report) [0.03%]
极早早产儿（≤28孕周）的神经影像结果、短期运动技能发育评估及自闭症谱系障碍风险的相关性——前瞻性队列研究（初步报告）
Magdalena Rutkowska,Monika Bekiesińska-Figatowska,Grażyna Kmita et al.
Magdalena Rutkowska et al.
Objective: Infants ≤28 GA are at particular risk of psychomotor and neurological developmental disorder. They also remain at a higher risk of developing autism spectrum disorder (ASD), characterized by persistent deficit...
The mutation responsible for torsion dystonia type 1 shows the ability to stimulate intracellular aggregation of mutant huntingtin [0.03%]
致扭转性肌张力不全1型的突变具有刺激突变型亨廷顿蛋白细胞内聚集的能力
Marta Jurek,Ewa Obersztyn,Michał Milewski
Marta Jurek
Objective: Introduction: Torsion dystonia type 1 is the most common form of early-onset primary dystonia. Previous reports have suggested that torsin 1A, a protein mutated in this disease, might function as a chaperone th...
[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience ] [0.03%]
脆性X染色体综合征及FMR1相关疾病诊断方案的经验谈
Aleksandra Landowska,Sylwia Rzońca,Jerzy Bal et al.
Aleksandra Landowska et al.
The presence of dynamic mutation in the FMR1 gene localized on the X chromosome (Xq28) is the major cause of Fragile X syndrome. As this syndrome is quite frequently diagnosed in patients with intellectual disability and autism spectrum dis...
[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background] [0.03%]
[脆性X染色体综合征及FMR1依赖性疾病-临床表现、流行病学及分子背景]
Aleksandra Landowska,Sylwia Rzońca,Jerzy Bal et al.
Aleksandra Landowska et al.
Fragile X syndrome (FXS) is the second most common inherited cause of intellectual disability (ID), after Down syndrome. The severity of ID in FXS patients varies and depends mainly on the patient's sex. Besides intellectual disorders, addi...
Miriam Katz
Miriam Katz
The possible implications of physical activity during the period of pregnancy have been much debated over recent decades. This brief appraisal integrates knowledge from an array of position papers, systematic reviews, meta-analyses, and rec...
[One-phase split-bolus CT Urography - a novel approach to reduce radiation dose in diagnostics of congenital anomalies of kidneys and urinary tract in children] [0.03%]
一阶段分次 bolus 急性期CT尿路成像：儿童先天性泌尿系统畸形诊断中减少辐射剂量的一种新方法
Przemysław Bombiński,Michał Brzewski,Stanisław Warchoł et al.
Przemysław Bombiński et al.
Background: Low-dose CT Urography (LD-CTU) has become a standard procedure in urinary tract abnormalities in children, especially when MR Urography is not available. Standard one-phase CTU is performed in excretory phase....
[The intensity of anxiety and symptoms of post-traumatic stress disorder in mothers and the cognitive development of their prematurely born children] [0.03%]
早产儿母亲的焦虑强度和创伤后应激障碍症状与婴儿认知发展之间的关系
Tamara Zofia Walczak,Magdalena Chrzan-Dętkoś
Tamara Zofia Walczak
Cel: Poszukiwanie związku pomiędzy nasileniem lęku i objawów zespołu stresu pourazowego (PTSD) u matek a zimnymi i gorącymi funkcjami wykonawczymi ich urodzonych przedwcześnie dzieci. ...
Jayesh Desale,Hemanshi Shah,Vikrant Kumbhar et al.
Jayesh Desale et al.
Desmosis coli is a rare pathology presenting as slow transit constipation. In this case we would like to discuss the presentation and management of desmosis coli. A 14-month-old female hailing from western India with a history of chronic co...
The state of immunity in pregnancies complicated by intrauterine infection of the fetus [0.03%]
胎儿宫内感染妊娠的免疫状态分析
Nikolay A Shcherbina,Liudmyla А Vygivska
Nikolay A Shcherbina
Objectives: To study the state of immunity in pregnancies associated with urogenital infection and complicated by intrauterine infection. Material and met...
Long-term follow up of a boy with unilateral autosomal dominant polycystic kidney disease and contralateral renal agenesis [0.03%]
单侧常染色体显性遗传多囊肾病伴对侧肾脏发育不良的长期随访
Grażyna Krzemień,Agnieszka Turczyn,Małgorzata Pańczyk-Tomaszewska et al.
Grażyna Krzemień et al.
In patients with autosomal dominant polycystic kidney disease (ADPKD) coexisting abnormalities of the urinary tract are considered rare. Only a few patients with ADPKD and congenital abnormalities of the kidney and urinary tract- renal agen...