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

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 *** studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell ***1 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 *** mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous *** 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 *** revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the *** 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 *** had no meaningful utterance and could not pronounce words *** was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to *** had no rash,cafe-au-lait macules,or depigmentation *** had thick black hair and low-set *** had highly sensitive skin,especially on his face and *** had no abnormal palm *** and abdominal examinations revealed no *** had normal limb muscle strength and *** showed normal tendon reflexes of both *** bilateral Babinski and meningeal irritation signs were

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

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Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome:A case report

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World Journal of Clinical Cases 2022年第6期10卷 1889-1895页

作者： shuang-zhu lin Jin-Hua Feng Li-Ping Sun Hong-Wei Ma Wan-Qi Wang Jia-Yi Li Diagnosis and Treatment Center for Children The First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Department of Developmental Pediatrics Shengjing Hospital of China Medical UniversityShenyang 110004Liaoning ProvinceChina Changchun University of Chinese Medicine Changchun 130021Jilin ProvinceChina

BACKGROUND This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome,and contributes to the current knowledge on the *** SUMMARY We report an 11-year-old boy with Alazami-Yuan *** main clinical manifestations were rapid development of puberty,typical facial features of Cornelia de Lange syndrome,and normal *** blood DNA samples obtained from the patient and his parents were sequenced using highthroughput whole-exosome sequencing,which was verified by Sanger *** results showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6(TAF6)*** mutation of c.1052delT was from his mother and the mutation of c.76A>T was from his *** This study extends the mutation spectrum of the TAF6 gene,and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.

关键词： Alazami-Yuan syndrome TAF6 Children Cornelia de Lange syndrome Case report

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VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report

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World Journal of Clinical Cases 2022年第24期10卷 8749-8754页

作者： Xiao-Hui Wu shuang-zhu lin Yan-Qiu Zhou Wan-Qi Wang Jia-Yi Li Qian-Dui Chen Department of Neurology Quanzhou Children's HospitalQuanzhou 362000Fujian ProvinceChina Diagnosis and Treatment Center for Children The Affiliated Hospital of Changchun University of Chinese MedicineChangchun 130103Jilin ProvinceChina Pediatrics of Traditional Chinese Medicine College of Traditional Chinese MedicineChangchun University of Chinese MedicineChangchun 130117Jilin provinceChina College of Integrated Chinese and Western Medicine Changchun University of Chinese MedicineChangchun 130117Jilin ProvinceChina

BACKGROUND The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults,which can occur at any time in life,often associated with neurological dysfunction,and lead to chronic disability and premature *** one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes,suggesting defects in protein synthesis within the *** here report a child with VARS2 gene mutations causing mitochondrial *** SUMMARY A girl,aged 3 years and 4 mo,had been unable to sit and crawl alone since birth,with obvious seizures and *** magnetic resonance imaging showed symmetrical,flaky,long T1-weighted and low T2-weighted signals in the posterior part of the bilateral putamen with a high signal shadow.T2 fluidattenuated inversion recovery imaging showed a slightly high signal and diffusion-weighted imaging showed an obvious high ***-exome gene sequencing revealed a compound heterozygous mutation in the VARS2 gene,c.1163(exon11)C>T and c.1940(exon20)C>T,which was derived from the *** child was diagnosed with combined oxidative phosphorylation deficiency type *** In this patient,mitochondrial disorders including Leigh syndrome and MELAS syndrome(mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes)were ruled out,and combined oxidative phosphorylation deficiency type 20 was diagnosed,expanding the phenotypic spectrum of the disease.

关键词： Mitochondrial aminoacyl-tRNA synthetase Mitochondrial diseases VARS2 Case report

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Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis,renal dysfunction and cholestasis syndrome 1:A case report

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World Journal of Clinical Cases 2022年第30期10卷 11016-11022页

作者： Hui Yang shuang-zhu lin Shi-Hui Guan Wan-Qi Wang Jia-Yi Li Gui-Dan Yang Su-Li Zhang Department of Neonatology Hainan Women and Children's Medical CenterHaikou 570100Hainan ProvinceChina Diagnosis and Treatment Center for Children The First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Changchun University of Chinese Medicine Changchun 130000Jilin ProvinceChina

BACKGROUND The VPS33B(OMIM:608552)gene is located on chromosome *** found a female infant with autosomal recessive arthrogryposis,renal dysfunction and cholestasis syndrome 1(ARCS1)caused by mutation in *** child was diagnosed with ARCS1(OMIM:208085)after the whole exome sequencing revealed two heterozygous mutations(c.96+1G>C,c.242delT)in the VPS33B *** SUMMARY We report a Chinese female infant with neonatal cholestasis disorder,who was eventually diagnosed with ARCS1 by genetic *** testing revealed two new mutations(c.96+1G>C and c.242delT)in VPS33B,which is the causal *** patient was compound heterozygous,and her parents were both *** This study extends the mutational spectrum of the VPS33B gene to provide a molecular basis for the etiological diagnosis of ARCS1 and for genetic counseling of the family.

关键词： Arthrogryposis,renal dysfunction and cholestasis syndrome 1 VPS33B gene Children Heterozygous mutation Case report

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Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome:A case report

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World Journal of Clinical Cases 2022年第15期10卷 5018-5024页

作者： Su-Li Zhang shuang-zhu lin Yan-Qiu Zhou Wan-Qi Wang Jia-Yi Li Cui Wang Qi-Ming Pang Department of Neuroscience Hainan Women and Children's Medical CenterHaikou 570100Hainan ProvinceChina Diagnosis and Treatment Center for Children First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Changchun University of Chinese Medicine Changchun 130000Jilin ProvinceChina

BACKGROUND This case report describes a child with Hutchinson-Gilford progeria syndrome(HGPS,OMIM:176670)caused by LMNA(OMIM:150330)gene mutation,and we have previously analyzed the clinical manifestations and imaging characteristics of this *** 1-year treatment and follow-up,we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the *** SUMMARY In April 2020,a 2-year-old boy with HGPS was found to have an abnormal appearance,and growth and development lagged behind those of children of the same *** child’s weight did not increase normally,the veins of the head were clearly visible,and he had shallow skin color and sparse yellow *** blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing,which was verified by Sanger *** results showed that there was a synonymous heterozygous mutation of C.1824 C>T(P.G608G)in the LMNA *** Mutation of the LMNA gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.

关键词： Hutchinson-Gilford progeria syndrome LMNA Children Physiological function Organ aging Case report

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Retroperitoneal leiomyoma located in the broad ligament: A case report

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World Journal of Clinical Cases 2022年第32期10卷 12022-12027页

作者： Xue-Song Zhang shuang-zhu lin Yu-Jiao Liu Lei Zhou Qian-Dui Chen Wan-Qi Wang Jia-Yi Li Department of Gynecology First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Diagnosis and Treatment Center for Children First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Department of Respiratory Medicine First Affiliated Hospital of Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Department of Pathology First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Department of Integrated Traditional Chinese and Western Medicine Changchun University of Chinese MedicineChangchun 130117Jilin ProvinceChina Department of Traditional Chinese Medicine Changchun University of Chinese MedicineChangchun 130117Jilin ProvinceChina

BACKGROUND Retroperitoneal leiomyoma is a rare benign *** leiomyomas located in the latissimus uterine ligament are even *** leiomyomas have similar characteristics to uterine leiomyomas in terms of tissue,which results in confusion during *** SUMMARY A 47-year-old female with 3 years of pain in the right lower quadrant and discovery of a pelvic mass 13 d ago underwent open abdominal *** the right broad ligament,a solid mass with well circumscribed boundaries,approximately 15 cm×10 cm×10 cm in size was bluntly peeled *** pathological result was a spindle cell tumor,morphologically considered to originate from smooth *** results supported a deep soft tissue *** Retroperitoneal leiomyoma is a rare benign tumor,and surgical treatment can have a good therapeutic effect.

关键词： Leiomyoma Broad ligament Spindle cell tumor Surgery Case report

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Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report

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World Journal of Clinical Cases 2022年第31期10卷 11486-11492页

作者： shuang-zhu lin Qi-Ji Ma Qi-Ming Pang Qian-Dui Chen Wan-Qi Wang Jia-Yi Li Su-Li Zhang Diagnosis and Treatment Center for Children The First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina The First Affiliated Hospital to Changchun University of Chinese Medicine Changchun 130021Jilin ProvinceChina Department of Neonatology Hainan Women and Children's Medical CenterHaikou 570100Hainan ProvinceChina Changchun University of Chinese Medicine Changchun 130000Jilin ProvinceChina

BACKGROUND Combined pituitary hormone deficiency 3(CPHD3;OMIM:221750)is caused by mutations within the LHX3 gene(OMIM:600577),which located on the subtelomeric region of chromosome 9 at band 9q34.3,has seven coding exons and six *** homeobox(LHX)3 protein is the key regulator of pituitary development in fetal *** SUMMARY We have diagnosed and treate an 11-year-old boy with combined pituitary hormone deficiency(CPHD).The main clinical manifestations were pituitary hormone deficiency,hydrocele of the tunica vaginalis,pituitary dwarfism,gonadal dysplasia,micropenis,clonic convulsion,and mild facial dysmorphic *** collected peripheral blood from the patient,the patient's older brother,as well as their parents,and sequenced them by using high-throughput whole-exosome sequencing,which was verified by Sanger *** results showed that there were two compound heterozygous variants of c.613G>C(p.V205L)and c.220T>C(p.C74R)in the LHX3 gene.c.613G>C(p.V205L)was inherited from his mother and c.220T>C(p.C74R)from his *** brother also has both variants and *** This study reported ununreported genetic mutations of LHX3,and recorded the treatment process of the patients,providing data for the diagnosis and treatment of CPHD.

关键词： Combined pituitary hormone deficiency LHX3 Children Gonadal dysplasia Case report

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Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient:A case report

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World Journal of Clinical Cases 2022年第21期10卷 7517-7522页

作者： shuang-zhu lin Hong-Yan Xie Yan-Lai Qu Wen Gao Wan-Qi Wang Jia-Yi Li Xiao-Chun Feng Chun-Quan Jin Diagnosis and Treatment Center for Children The First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina Changchun University of Chinese Medicine Changchun 130000Jilin ProvinceChina

BACKGROUND Xia–Gibbs syndrome(XGS,OMIM:615829),caused by mutations within the ATHook DNA-binding motif-containing protein 1(AHDC1)gene(OMIM:615790),located on the short arm of chromosome 1 within the cytogenetic band 1p36.11,contains five noncoding 5 exons,a single 4.9-kb coding exon,and a noncoding 3 *** SUMMARY In this case report,we diagnosed and treated a 6-mo-old girl with *** primary clinical symptoms included global developmental delay,hypotonia,and mild dysmorphic *** high-throughput whole-exosome sequencing to sequence the patient and her parents,and the results showed a novel frameshift mutation of c.1155dupG(***386Alafs*3)in the AHDC1 *** paternal gene was wild *** This report extends the mutation spectrum of the AHDC1 gene to provide the diagnostic basis for genetic counseling in families with XGS.

关键词： Xia-Gibbs syndrome AT-Hook DNA-binding motif-containing protein 1 Children Global developmental delay Case report

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Aicardi-Goutières syndrome type 7 in a Chinese child:A case report

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World Journal of Clinical Cases 2023年第11期11卷 2452-2456页

作者： shuang-zhu lin Jing-Jing Yang Tian-Long Xie Jia-Yi Li Jia-Qi Ma Si Wu Na Wang Yong-Ji Wang Diagnosis and Treatment Center for Children Affiliated Hospital of Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina College of Traditional Chinese Medicine Changchun University of Chinese MedicineChangchun 130017Jilin ProvinceChina

BACKGROUND IFIH1 is a protein-coding *** associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type *** pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune *** type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological *** infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene *** patients develop normally in the early stage,and then have episodic neurological *** SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone *** samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number *** mutations in the IFIH1 gene were *** examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous ***,the child had rich gesture language and body language,could understand instructions,had bad *** she wants to achieve something,she starts crying or *** examination showed no obvious abnormality,and abdominal examination was *** muscle strength and muscle tone were symmetrical and slightly *** reflexes exist,but pathological reflexes were not *** We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.

关键词： Aicardi-Goutières syndrome type 7 IFIH1 gene Children Case report

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A two-field-scan harmonic Hall voltage analysis for fast, accurate quantification of spin-orbit torques in magnetic heterostructures

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Science China(Physics,Mechanics & Astronomy) 2024年第10期Mechanics & Astronomy) .卷 109-116页

作者： Xin lin Lijun zhu State Key Laboratory of Superlattices and Microstructures Institute of SemiconductorsChinese Academy of Sciences College of Materials Science and Opto-Electronic Technology University of Chinese Academy of Sciences

We report on the development of a “two-field-scan” harmonic Hall voltage(HHV) analysis, which collects the second HHVas a function of a swept in-plane magnetic field at 45° and 0° relative to the excitation current, for the determination of the spin-orbit torques of transverse spins in magnetic heterostructures without significant perpendicular spins, longitudinal spins, and longitudinal/perpendicular Oersted fields. We demonstrate that this two-field-scan analysis is as accurate as the well-established but time-consuming angle-scan HHV analysis even in the presence of considerable thermoelectric effects but takes more than a factor of 7 less measurement time. We also show that the fit of the HHV data from a single field scan at 0°, which is commonly employed in the literature, is not reliable because the employment of too many free parameters in the fitting of the very slowly varying HHV signal allows erroneous conclusion about the spin-orbit torque efficiencies.

关键词： spin-orbit torque spin current spin-orbit coupling spintronics

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