ObjectiveTo investigate the effect of intensive rehabilitation training on gross motor function in children with cerebral palsy. Methods101 children with cerebral palsy were divided into routine group (n=51) and trunk group (n=50). They were assessed with Gross Motor Function Measure (GMFM) before and after treatment. ResultsThe scores of GMFM improved in both group after treatment. There was significant difference between them 6 months after treatment (P<0.05), but not within 3 months (P＞0.05). ConclusionIntensive rehabilitation training can improve the recovery of gross motor function in children with cerebral palsy.

ObjectiveTo introduce the indications and operative procedure of anatomic reconstruction of the distal radioulnar ligaments in patients with chronic instability of the distal radioulnar joint(DRUJ),and report its preliminary clinical results.Methods From October 2008 to June 2009,6 patients with instability of the DRUJ underwent anatomical reconstruction using a free palmaris longus tendon graft,including 4 males and 2 females with an average age of 22 years.A 5 cm dorsal incision was made between the fifth and sixth extensor compartments.An L-shaped flap was created in the DRUJ capsule.This flap is then elevated proximally to expose the articular surface of the DRUJ and the proximal triangular fibular cartilage complex(TFCC).A tunnel was made through the radius.The other tunnel was made between the ulnar neck and the fovea of the ulnar head.A whole-length palmaris longus tendon graft was taken.The volar opening of the radius tunnel was exposed through a longitudinal incision radial to the flexor carpi ulnaris tendon.One end of the graft was pulled to the palmar side easily through the tunnel.A hemostat was penetrated through the volar capsule to the volar side proximal to the remaining TFCC.The end of the graft was grasped with the hemostat and pulled back along this tract.Both graft limbs were passed through the ulnar tunnel to exit at the ulnar neck.One limb of the tendon was passed around the ulnar neck and deep to the ECU sheath.With the forearm in neutral rotation,the limbs were pulled taut,tied together,and secured with sutures.Immobilize the extremity in a long-arm plaster splint with the forearm in neutral position for 4 weeks,and changed to a short arm cast for an additional four weeks.ResultsThe average follow-up period for all 6 patients was 14 months(range,9-24).No infection and sensory nerve branch disturbance occurred.The pain symptom was reduced and the grip force was improved significantly.A functional evaluation was performed using the modified Mayo wrist scoring system.All patients had better wrist scores postoperatively in the short (mean,95) term compared to preoperatively(mean,69).Five patients satisfied with the final result.Conclusion Anatomic reconstruction of the distal radioulnar ligaments is indicated for chronic DRUJ instability without osteoarthritis,it is a reliable method with a very good short term follow up result.Restoration of the radioulnar ligaments offers the best possibility to restore the normal DRUJ primary constraints and kinematics.

Objective To analyze the economic effects of different rehabilitation patterns for children suffering from cerebral palsy. Methods A total of 153 cerebral palsy patients were divided into a hospital-community-family rehabilitation group(n = 52), a hospital rehabilitation group (n = 50) and a non-intervention control group (n = 51). Those in the first group were provided with a hospital-community-family rehabilitation therapy pattern, those in the sec-ond only hospital rehabilitation and the third no intervention. All the patients were evaluated using the Gross Motor Function Measure-88 (GMFM-88) Scale and the Cost Measure Scale at admission, and at the end of the 3rd and 6th months of treatment. Results There were no significant differences in gross motor function among the three groups at admission. At the end of the 3rd month and the 6th month there were significant differences between the children in the hospital-community-family rehabilitation program and those in the hospital rehabilitation program in terms of gross motor function. Their general percentage, monthly percentage and monthly relative percentage results were all significantly different. But there was no significant difference in the non-interventian control group since admission. Every unit of improvement in gross motor function cost $101.87±97.59, $75.11±45.75 in the hospital-community-family reha-bilitation program and $387.21±54.76, $170.31±123.16 in the hospital rehabilitation program at the end of the 3rd and the 6th month respectively. So the cost of the former was only about 30% of the latter. Conclusion Hospital rehabilitation is suitable for the early rehabilitation of cerebral palsy children. Hospital-community-family rehabilitation is better for long-term rehabilitation of cerebral palsy children, and what is more, it can decrease the rehabilitation ther-apy cost substantially. So a hospital-community-family rehabilitation pattern is more compatible with China's national situation.

Cerebral palsy is due to the development of the fetus or infant brain damage caused by non progressive,and the performance of continuous movement and postural abnormalities,which is one of the most common causes of disability in children.So far there is no specific treatment for cerebral palsy,mainly rehabilitation,which divided into traditional Chinese medicine rehabilitation therapy and modern western medicine rehabilitation therapy.This article reviews the research progress of traditional Chinese medicine and western medicine in the treatment of cerebral palsy.

OBJECTIVE: To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene. METHODS: DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient had typical CFCS facies and developmental delay, and was found to harbor a de novo heterozygous c.389A>G (p.Tyr130Cys) missense variant in exon 3 of the MAP2K1 gene. Based on the American college of Medical Genetics and Genomics guidelines, this variant was classified as likely pathogenic. CONCLUSION This patient has differed from previously reported cases by having no cardiac anomaly or seizures but typical facial features and skin abnormalities accompanied by growth retardation, intellectual impairment, and urinary malformation. It has therefore enriched the phenotypic spectrum of CFCS due to variants of the MAP2K1 gene.
Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital ; Humans ; MAP Kinase Kinase 1/genetics* ; Mutation

OBJECTIVETo explore a surgical model of utilizing consecutive free scapular flap and adjacent pedicled flap transfer for repairing massive soft tissue defects on the dorsum of the hand while minimizing the donor site morbidity.

METHODSSix patients with massive soft tissue injuries on the opisthenar and forearm were treated with free scapular flaps. Afterwards, a pedicled flap adjacent to the donor site was transferred to cover the donor site defect by direct closure.

RESULTSAll six free scapular flaps survived without signs of infection. Three adjacent pedicled flaps presented minor signs of insufficient blood flow on the distal apex, which resolved after six weeks with only conservative therapy. All the incisions healed without other complications. At six-month follow-up, the patients regained full shoulder function.

CONCLUSIONWith the assistance of an adjacent pedicled flap, the scapular flap is a highly applicable approach in repairing massive soft tissue defects in the opisthenar. It can achieve positive outcomes in both reconstructive and aesthetic aspects.

Adult ; Arm Injuries ; surgery ; Debridement ; Drainage ; Female ; Hand Injuries ; surgery ; Humans ; Male ; Reconstructive Surgical Procedures ; methods ; Scapula ; blood supply ; Soft Tissue Injuries ; surgery ; Surgical Flaps ; blood supply ; Treatment Outcome

Objective To investigate the clinical,imaging and IBA57 gene mutation features in a Chinese patient with multiple mitochondrial dysfunction syndrome,and to evaluated the effect of comprehensive rehabilitation.Methods The clinical data of 1 case of multiple mitochondrial dysfunction syndrome with IBA57 mutation in Department of Rehabilitation,Anhui Provincial Children's Hospital were analyzed."IBA57 white matter malnutrition" and "IBA57 leukodystrophy" were used as the key words,to search for papers which were included in CNKI,the knowledge service platform of Wanfang Data,and biomedical literature database (PubMed) from its establishment to February 2017.The clinical,imaging and gene mutation characteristics of children with IBA57 gene mutation were summarized.Results Children,male,four years and 8 months,for "movement disorders for nearly 4 years,repeated seizures 1 and a half years" in February 2017 hospitalized again.The boy was admitted into hospital when he was one year of age because of motor and cognitive disorder after fever,Disease was development,The skull MRI showed multiple abnormal signal in bilateral frontal occipital lobe and semi-oval center white matter.Cognitive and verbal improvement was better,and the motor function gradually improved after repeated rehabilitation in our hospital,skull MRI showed that multiple abnormalities were reduced in bilateral frontal occipital lobe and semi-oval center white matter.However,The boy presented twitch when he was three years and 2 months old.Skull MRI showed that multiple abnormal signal increased in bilateral forehead occipital lobe and semi-oval center white matter in four years and 3 months and 6 months of age.The child was diagnosed with white matter disease after multiple hospitalizations,and c.286T ＞ C (p.Tyr86 His) and c.1053 G ＞ A (p.Trp351 *) were found in the IBA57 gene through exome sequencing analysis,as the 2 mutations constituted complex heterozygous mutation.The former was inherited from the mother,and the mutation was missense mutation,so the protein structure was predicted to be harmful;the latter was inherited from the father,and the mutation was nonsense mutation,which could lead to the coding protein truncation,and this was never reported before.The child was diagnosed as multiple mitochondrial dysfunction syndrome type 3,followed by treatment with high-dose coenzyme Q10,ATP,compound vitamin B and others.While taking levetiracetam and topiramate antiepileptic,and family rehabilitation,his condition was stable.Conclusion The extensive white matter lesions presented in the child may be caused by mitochondrial disease with IBA57 gene mutation.

OBJECTIVE: To explore the genetic basis for a child with febrile seizures. METHODS: Peripheral venous blood samples were taken from the child and his parents for the analysis of chromosomal karyotype and dynamic variant of the FMR1 gene. The family trio was also subjected to target capture and next generation sequencing (NGS) with a gene panel related to developmental retardation, mental retardation, language retardation, epilepsy and special facial features. RESULTS: The child was found to have a normal karyotype by conventional cytogenetic analysis (400 bands). No abnormal expansion was found with the CGG repeats of the FMR1 gene. NGS revealed that the child has carried a heterozygous c.864+1 delG variant of the MEF2C gene, which may lead to abnormal splicing and affect its protein function. The same variant was found in neither parent, suggesting that it has a de novo origin. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.864+1delG variant of MEF2C gene was predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION MEF2C, as the key gene for chromosome 5q14.3 deletion syndrome which was speculated as a cause for febrile seizures, has an autosomal dominant effect. The c.864+1delG variant of the MEF2C gene may account for the febrile seizures in this patient.
Child ; Chromosome Deletion ; Chromosome Disorders ; Epilepsy ; Fragile X Mental Retardation Protein ; Humans ; Intellectual Disability/genetics* ; Karyotyping ; MEF2 Transcription Factors/genetics*

OBJECTIVE: To explore the genetic basis of three children with unexplained mental retardation/developmental delay. METHODS: Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3. RESULTS: The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant. CONCLUSION For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations.
Child ; DNA Copy Number Variations ; Facies ; Glycosyltransferases/genetics* ; Hirschsprung Disease ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics*

OBJECTIVE: To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness. METHODS: The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene. RESULTS: The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). CONCLUSION The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.
Female ; Humans ; Blepharophimosis/genetics* ; Blepharoptosis ; Genotype ; Histone Acetyltransferases ; Infant