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Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion:A case report

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World Journal of Clinical Cases 2021年第23期9卷 6858-6866页

作者： Shuang-Zhu Lin Xin-Yu Zhou Wan-Qi Wang Kai Jiang Department of Diagnosis and Treatment Center for Children First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Changchun University of Chinese Medicine Changchun 130021Jilin ProvinceChina

BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell type.FOXP1 also plays an important role in regulating the cell development and functions of the immune system,e.g.,regulating B-cell maturation and mononuclear phagocyte differentiation,and in the occurrence and development of various immune diseases.The mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous diseases.CASE SUMMARY A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features(low-set ears).DNA samples were extracted from the child’s and his parents’peripheral blood to detect whole-exome sequences and whole-genome copy number variations.Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child.Physical examination upon admission showed that the child was generally in good condition,had a moderate nutritional status,a slightly slow response to external stimuli,equally large and equally round bilateral pupils,was sensitive to light reflection,and had poor eye contact and joint attention.He had no meaningful utterance and could not pronounce words properly.He was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to instructions.He had no rash,cafe-au-lait macules,or depigmentation spots.He had thick black hair and low-set ears.He had highly sensitive skin,especially on his face and palms.He had no abnormal palm fingerprint.Cardiopulmonary and abdominal examinations revealed no abnormalities.He had normal limb muscle strength and tension.He showed normal tendon reflexes of both knees.His bilateral Babinski and meningeal irritation signs were negative.He had a normal male vulva.CONCLUSION

关键词： mental retardation Developmental retardation FOXP1 Genetic expression Case report

Molecular Genetic Analysis of Partial 9p Trisomy in Two Chinese Families with mental retardation and Facial Anomaly

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2011年第4期31卷 570-577页

作者：冯爱平代小华王晓然高勇罗瑞丽李雨雷张娜刘静宇 Department of Dermatology Union HospitalTongji Medical CollegeHuazhong University of Science and Technology Key Laboratory of Molecular Biophysics of the Ministry of Education College of Life Science and TechnologyCenter for Human Genome ResearchHuazhong University of Science and Technology Laboratory of Human Genetics Nanyang Institute of Planned Parenthood

mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy,clinical features of mental retardation and mild facial and pinkie anomalies.In the family 1,we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171,an interval of about 2.9 Mb on 9p21.3,and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446,a region of about 1.5 Mb on 21q22.3.In the family 2,a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter,and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother.Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33.Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family.These results further implicate that trisomy 9p is associated with mental retardation,and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly.This result has been applied successfully in prenatal diagnosis of the second family.

关键词： partial 9p trisomy mental retardation molecular genetic analysis prenatal diagnosis

High-grade serous carcinoma of the fallopian tube in a young woman with chromosomal 4q abnormality:A case report

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World Journal of Clinical Cases 2024年第18期12卷 3539-3547页

作者： Kai-Cheng Zhang Shao-Yin Chu Dah-Ching Ding Department of Obstetrics and Gynecology Hualien Tzu Chi HospitalBuddhist Tzu Chi Medical FoundationTzu Chi UniversityHualien 970Taiwan Department of Pediatrics Hualien Tzu Chi HospitalBuddhist Tzu Chi Medical FoundationTzu Chi UniversityHualien 970Taiwan Institute of Medical Sciences Tzu Chi UniversityHualien 970Taiwan

BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.

关键词： High-grade serous carcinoma Fallopian tube Young age Chromosomal abnormality mental retardation Aging Case report

Correlating fine motor function to cognitive competence in children with mental retardation An analysis of 42 cases

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Neural Regeneration Research 2008年第3期3卷 341-344页

作者： Xiaoli Qu Hong Yang Hui Li Bingpei Shi Wei Shi Dongdong Chen Donghao Xu Jing Miu Children＇s Rehabilitation Center ＆ Huajing District Hospital Children＇s Hospital Affiliated to Fudan University Shanghai 200032 China

BACKGROUND： In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help to develop and perform corresponding functional training for children with mental retardation （MR）. OBJECTIVE： This study was designed to evaluate and analyze the correlation of fine motor function to cognitive competence in MR children using the Peabody Developmental Motor Scale-Fine Motor （PDMS-FM） and Symbolic Play Test. DESIGN： Scale evaluation and correlation analysis. SETTING： Children＇s Rehabilitation Center ＆ Huajing District Hospital, Children＇s Hospital Affiliated to Fudan University. PARTICIPANTS： A total of 42 MR children, 28 males and 14 females, aged 14-69 months, were admitted to the Rehabilitation Center, Children＇s Hospital, Fudan University between June 2003 and April 2006, and were recruited for this study. All children corresponded to MR diagnosis criteria determined by Chinese Neurology and Psychiatry Society in 1989. Written informed consent for participating in the evaluation and for evaluated content was obtained from each child＇s guardian. METHODS： Subsequent to admission and prior to treatment, fine motor function of each MR child was evaluated using PDMS-FM （Chinese version）. The scale captured 98 items that formed the grasping （Gr） and visual-motor integration （Vi） subtests. Cognitive competence was evaluated using the Symbolic Play Test （Chinese version）, which captured four 6-item specific contents. The original score of each subtest was used to evaluate results for statistical analysis. Higher scores from the two evaluations indicated stronger abilities. Pearson correlation analysis was applied for analyzing data correlation. MAIN OUTCOME MEASURES： Fine motor function was evaluated using PDMS-FM. Cognitive competence was measured using the Symbolic Play Test. Correlations between results from the two evaluations were analyzed. RESULTS： All 42 MR children were included i

关键词： mental retardation fine motor function cognitive competence

Prevalence of fragile X syndrome among patients with mental retardation in the west of Iran

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Frontiers in Biology 2018年第6期13卷 464-468页

作者： Peyman Hadi Karimeh Haghani Ali Noori-Zadeh Salar Bakhtiyari Department of biology Sanandaj BranchIslamic Azad UniversityKurdistanIran Department of Clinical Biochemistry Faculty of MedicineIlam University of Medical SciencesIlamIran Department of Clinical Biochemistry Faculty ofParamedicineIlam University of Medical SciencesIlamIran

Fragile X syndrome (FXS), an X-linked disorder, is the most common cause of inherited mental retardation. This is caused by a trinucleotide CGG repeat expansion (>200) on the fragile X mental retardation 1 gene (FMR1) becoming methylated leading to a deficiency or absence of the FMR1 protein. Determining FXS prevalence in the mentally retarded individuals in the west of Iran was the aim of this study. 200 patients with moderate mental retardation who were clinically suspicious to FXS were screened using cytogenetic and molecular methods. Blood samples were collected and cultured in the specific culture media. The G-Banding method was used for karyotyping and DNA sequencing performed for verifying the results of the cytogenetic tests. 16 patients (8%) were found to have fragile X syndrome. The results showed that there is no significant association between the fragile X syndrome and economic status and place of residence, however, the relationship between fragile X syndrome and mental retardation in the family history is significant. The frequency of FXS was similar to other reports in the preselected patients. For diagnosis of FXS, chromosome analysis must be accompanied by molecular studies.

关键词： genetic diseases inborn FMR1 karyotype diagnosis mental retardation

Virtual reality based multiple life skill training for intellectual disability:A multicenter randomized controlled trial

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Engineered Regeneration

Engineered Regeneration 2022年第2期3卷 121-130页

作者： James Chung-Wai Cheung Ming Ni Andy Yiu-Chau Tam Tim Tin-Chun Chan Alyssa Ka-Yan Cheung Ocean Yu-Hong Tsang Chi-Bun Yip Wing-Kai Lam Duo Wai-Chi Wong Department of Biomedical Engineering Faculty of EngineeringThe Hong Kong Polytechnic UniversityHong Kong 999077China Research Institute for Smart Ageing The Hong Kong Polytechnic UniversityHong Kong 999077China Jockey Club Smart Ageing Hub Department of Biomedical EngineeringFaculty of EngineeringThe Hong Kong Polytechnic UniversityHong Kong 999077China Department of Orthopaedics Pudong New Area People’s Hospital Affiliated to Shanghai Jiaotong UniversityShanghai 201299China Social Service Department Yan Chai HospitalHong Kong 999077China C2 Innovations and Research Limited Hong Kong 999077China Department of Kinesiology Shenyang Sport UniversityShenyang 110102China Sports Information and External Affairs Centre Hong Kong Sports InstituteHong Kong 999077China

Life skill-based training is essential for intellectual disabled individuals to regain autonomy and social inclusion.Virtual reality(VR)could deliver a nascent application that is more engaging and secure.The objective of this study was to evaluate the training effects of the VR-based multiple life skill training program on life skill perfor-mance,self-efficacy,memory,cognitive and behavioral functions via a multicenter randomized controlled trial.A total of 145 intellectual disabled participants were recruited for a randomized controlled trial with three in-tervention arms:VR(n=42);traditional(n=53);and control(n=50).The life skill tasks for the interventions included 1)grocery shopping,2)cooking,and 3)kitchen cleaning.Outcome measures were performance scores for the three tasks,self-efficacy scale,digit span score,and Frontal Assessment Battery score,graded by blinded assessors.Before-after effects of each group were evaluated using separated Wilcoxon Signed-rank tests.VR sig-nificantly improved cooking,cleaning performance,and memory span,while traditional training significantly improved shopping,cooking,and cleaning tasks.The generalized estimating equation evaluated effects between groups adjusted for age,gender and intelligence quotient(IQ).VR had significantly larger improvement effects in cooking and cleaning than the control group and memory span compared to traditional training and controls groups.IQ appeared to be a significant confounder on the training effect.Future work may consider developing artificial intelligence to customize programs depending on IQ level.

关键词： mental retardation Intellectual development X-reality Immersive rehabilitation Metaverse

Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly

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Molecular genetic analysis of partial 9p trisomy in two Chin...

Non-Syndromic Mild mental retardation Candidate Gene CDKL3 Regulates Dendritic and Axonal Morphogenesis

湖北省遗传学会第八次代表大会暨学术讨论会

作者： Xiaohua Dai~(1,*),Hanyang Xu~(1,*),Guohua Yang~1,Xiaoran Wang~2,Xiaoniu Cui~1 and Jing Yu Liu#~1 1 Key Laboratory of Molecular Biophysics of the Ministry of Education,College of Life Science and Technology,Center for Human Genome Research,Huazhong University of Science and Technology, Wuhan 430072,P.R.China 2 Laboratory of Human Genetics,Nanyang Institute of Planned Parenthood,Nanyang 473200,Henan,P.R.China

mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation. We reported two Chinese families with partial trisomy 9p and clinical features of mental retardation and mild facial and pinkie anomalies.For one family with a karyotype of 46,XY/XX,der(21) add(9) (p22),we showed that the proband carried a partial 9p trisomy by using fluorescence in situ hybridization analysis.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171,an interval of about 2.9 Mb on 9p21.3.In the other family, partial trisomy 9p[46,XY,+der(5),t(5;9)(p15.3;p22)],and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1679 and D9S1870,an interval of about 2.7 Mb on 9p21.3.Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family.These results further implicate that trisomy 9p is associated with mental retardation,and that there may be a key gene duplication on chromosome 9pter→9p21.3 responsible for mental retardation and mild facial anomaly.

关键词： Partial 9p trisomy mental retardation Molecular genetic analysis

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Non-Syndromic Mild Mental Retardation Candidate Gene CDKL3 R...

Partial trisomy 4q:a case report

2010年第二届中国科学院博士后学术年会暨高新技术前沿...

作者：郑静华东理工大学药学院

mental retardation is a common neurological disorder and is characterized by various clinical manifestations with predominantly impaired cognitive function.To date,only a few genes linked to mental retardation have been well characterized,and the genetics of mental retardation remains poorly understood.Here,we investigated the role of Cdkl3,a mental retardation candidate gene,in neuronal morphogenesis.We showed that Cdkl3 mRNA expression is developmentally regulated in the central nervous system,peaking during neonatal stage;and CDKL3 protein is enriched in neuronal nuclei.Downregulating CDKL3 by RNAi decreased dendrite branching formation,total dendritic length and complexity in cultured cortical neurons,whereas it promoted axon growth without affecting axon/dendrite specification.Furthermore,depletion of CDKL3 in developing cortical neurons also inhibited dendritic growth and maturation,and reduced spine density on basal dendrites in vivo.In contrast,overexpression of CDKL3 promoted dendritic elaboration both in vitro and in vivo,and suppressed axonal outgrowth in vitro.Taken together, these findings demonstrated that CDKL3 is involved in neuronal morphogenesis during development.

关键词： CDKL3 neuronal morphogenesis development mental retardation

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Chinese Medical Journal 2006年第13期119卷 1136-1139页

作者： CUI Ying-xia WANG Yun-hua HAO Li-jun HOU Lin LI Wei HUANG Yun-feng Department of Reproduction and Genetics of Jinling Hospital Medical College of Nanjing University Nanjing 210002China

The clinical findings frequently presented in trisomy 4q syndrome including mental retardation, developmental delay and multiple abnormalities such as microcephaly, acrocephaly, as well as malformed ears, high/broad/depressed nasal bridge, teeth and thumb anomalies. It has been proposed that trisomy 4q is caused by a familial balanced translocation or a de novo imbalance. We reported a new case of trisomy 4q with a karyotype of 46, XY, der（5）t（4;5）（q27;q35） and this karyotye was reported for the first time. His phenotype included severe mental retardation, growth retardation, facial and thumb anomalies. Detected by cytogenetic investigation, comparative genomic hybridization, multicolor fluorescence in situ hybridization, the duplicated region from 4q27 to 4qter was confirmed. Trisomy 4q is a rare clinical finding. To our knowledge, this is the eighth case with duplicated fragment spanning from 4q27 to 4qter. Comparing the karyotypic and phenotypic correlation with those previously described, we reported a new case with partial trisomy 4q syndrome.

关键词： tnsomy mental retardation multiple abnormalities