A differentially expressed cDNA fragment obtained from a cDNA-AFLP analysis, which performed on floral buds of male sterile and fertile lines of cabbage, was used as a querying probe to blast the Genbank and Arabidopsis databases. Based on the assembled homologous cDNA sequences, a full-length cDNA of 633 bp for BoDHAR was cloned by RT-PCR. Furthermore, we have experimentally cloned and sequenced the 5' flanking sequence of gene BoDHAR by genomic walking method based on ligation-mediated PCR. The full length DNA sequence with 1486bp, containing two introns, was achieved. Homologous analysis shows that gene has 82.3% identity at nucleotide level, and 79.6% identity at amino acid level with Arabidopsis dehydroascorbate reductase (DHAR) gene AT1 G19570.1. Structurally, BoDHAR encodes a polypeptide of 210 amino acids, which contains a GST-c-DHAR domain highly conserved among other members of the DHAR superfamily and has multiple phosphorylation sites. Promoter predictions software indicated that the 5' upstream region contained putative transcription signals and conserved sequences, one CAAT-box, one G-box and four TGAC-like motifs. To advance our understanding of gene BoDHAR, tissue expression pattern were analyzed by semi-quantitative RT-PCR. The results indicate that expression level of gene BoDHAR is higher in fertile buds than that in sterile buds, and expressed intensively in the anther.
Amino Acid Sequence ; Base Sequence ; Brassica ; genetics ; Cloning, Molecular ; Molecular Sequence Data ; Oxidoreductases ; genetics ; Plant Infertility ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA

BACKGROUNDRecent studies have reported germline mutations in the perforin gene (PRF1) in some types of hemophagocytic lymphohistiocytosis (HLH). However, the prevalence of PRF1 mutations in HLH in Chinese pediatric patients has not been extensively studied. The aim of this study was to investigate the prevalence of mutations and sequence variations in the PRF1 gene in Chinese pediatric patients with HLH.

METHODSPolymerase chain reaction (PCR) was performed with five pairs of primers for the coding exons and the flanking intron sequences of PRF1. Sequencing of PCR products was subsequently applied in 30 pediatric patients with HLH and in 50 controls.

RESULTSThree heterozygous mutations in a coding region were found, which resulted in amino acid changes (C102F, S108N and T450M) in three patients. These mutations were not detected in control subjects. One patient had compound heterozygous mutations (S108N and T450M) in PRF1 as the background defect, and documented familial HLH type 2 (FHL2). One synonymous sequence variant (Q540Q) was observed in one patient but not in the controls. Two SNPs (A274A, H300H) in the coding region were detected in HLH patients and controls, but without differences in the heterozygosity rate between the two groups (P > 0.05 for all comparisons).

CONCLUSIONSWe have identified three patients with three heterozygous missense mutations in PRF1; two of those three mutations (C102F and S108N) have so far been found only from Chinese patients. These findings are useful in evaluating the prevalence of PRF1 mutations in Chinese pediatric patients with HLH, and to correlate their genotype with phenotype. Some patients without familial history probably have primary HLH, which should be suspected even beyond the usual age range.

Adolescent ; Amino Acid Sequence ; Child ; Child, Preschool ; Epstein-Barr Virus Infections ; genetics ; Female ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic ; genetics ; Male ; Molecular Sequence Data ; Mutation ; Perforin ; Polymerase Chain Reaction ; Pore Forming Cytotoxic Proteins ; genetics

OBJECTIVETo discuss the imaging manifestation and clinical value in herniation pit of femoral neck.

METHODSOne case proved by operation and pathology and twenty cases with typical imaging manifestation described by Pitt were reviewed retrospectively. There were 17 males and 4 females with an average age of 53 years old(ranging from 30 to 85 years). All cases were examined by X-ray films and CT, and 13 cases were performed with MRI.

RESULTSTwenty-nine lesions were found in the 21 cases, 9 cases were in right side, 8 cases were in left side, 4 cases were in both sides. The lesions were all located in the superior lateral part of the femoral neck and anterior lateral base of femoral head. The lesions were round or oval, and most of their greatest diameter was less than 16 mm. X-ray films showed a central radiolucency with a thin clear sclerotic rim or simple sclerotic loop. CT scans showed a well-defined lesion of soft-tissue attenuation with sclerotic margin. The lesions had focal cortical perforation. On MRI images,most lesions showed uniformly long T1 and long T2 fluid signal intensity.

CONCLUSIONHerniation pit of femoral neck have some specific imaging features, CT can make accurate diagnosis. X-ray and MRI are helpful to diagnosis.

Adult ; Aged ; Aged, 80 and over ; Female ; Femur Neck ; diagnostic imaging ; pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Tomography, X-Ray Computed

BACKGROUNDChronic active Epstein-Barr virus infection (CAEBV) has been previously reported to be sometimes associated with an aggressive clinical course. The characteristics of CAEBV in Mainland Chinese pediatric patients are largely unreported. The main aims of this survey were to recognize the clinical features of CAEBV in children and to explore its diagnostic criteria and risk factors.

METHODSA retrospective study was performed on 53 pediatric patients (36 boys and 17 girls) with CAEBV who were admitted to Beijing Children's Hospital between 2003 and 2007. All their medical records were reviewed and analyzed. For each patient, demographic, clinical, laboratory data and outcome were collected. Independent-samples t test was used for statistical analysis.

RESULTSThe age at onset of CAEBV was from 2 months to 14.6 years (mean (5.3+/-3.3) years). At the time of onset, 43.4% patients had an infectious mononucleosis-like symptom. Most patients exhibited intermittent fever (92.5%, 49/53), hepatomegaly (81.1%, 43/53) and splenomegaly (77.4%, 41/53). Life-threatening complications including hemophagocytic syndrome (24.5%, 13/53), interstitial pneumonia (24.5%, 13/53), hepatic failure (15.1%, 8/53) and malignant lymphoma (11.3%, 6/53) were also observed. The serum EBV DNA level in 23 patients with CAEBV was in the range of 5.05 x 10(2)-4.60 x 10(6) copies/ml with a mean value of 10(3.7) copies/ml. Many patients with CAEBV generally had continuous symptoms during the observational period. Eleven out of 42 patients (26.2%) died 7 months to 3 years after onset. Deceased patients were more likely to have had lower platelet counts and albumin levels than the living patients (P<0.05 for all comparisons).

CONCLUSIONSThe study reveals that CAEBV in Chinese pediatric patients has a severe clinical course and prognosis is poor. Thrombocytopenia and decreases in albumin might potentially be risk factors for a poor prognosis. EBV loads should be measured and tissue should be stained on hybridization probes for EBV-encoded small RNA (EBER) if a patient presents with the known symptoms of CAEBV.

Adolescent ; Age Distribution ; Child ; Child, Preschool ; China ; epidemiology ; Chronic Disease ; Epstein-Barr Virus Infections ; diagnosis ; epidemiology ; etiology ; pathology ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Risk Factors ; Serum Albumin ; analysis ; Thrombocytopenia ; complications

Objective To analyze the colonic transit time in patients with different severities of constipation.Methods From June, 2015 to September, 2017, 73 male patients with supraconal spinal cord injury were grouped as mild constipation group (n = 25) and severe constipation group (n = 48). They were measured the transit time of entire colorectum, ascending colon (including the right colic flexure), transverse colon, descending colon (including the left colic flexure) and rectosigmoid with Abrahamsson method.Results The transit time of entire colorectum, transverse colon, descending colon increased in the severe constipation group compared with that of the mild constipation group (P ＜ 0.05). For each group, the transit time of rectosigmoid was the longest among colon segments (P ＜ 0.05).Conclusion The colonic transit time of SCI male patients with various constipation is different in colon segments. Accurate interventions are needed to target colon segments.

BACKGROUNDThe main therapeutic treatments for hepatic artery complications after orthotopic liver transplantation (OLT) include thrombolysis, percutaneous transluminal angioplasty, stent placement, and liver retransplantation. The prognosis of hepatic artery complications after OLT is not only related to the type, extent, and timing but also closely associated with the selection and timing of the therapeutic methods. However, there is no consensus of opinion regarding the treatment of these complications. The aim of this study was to determine optimal treatment for hepatic artery complications after OLT.

METHODSThe clinical data of 25 patients diagnosed with hepatic artery thrombosis (HAT) and hepatic artery stenosis (HAS) between October 2003 and March 2007 were retrospectively reviewed. Treatments included liver retransplantation and interventions which contain thrombolysis, percutaneous transluminal angioplasty and stent placement.

RESULTSAmong five patients with HAT, 3 were treated with thrombolysis. One recovered, one died after thrombolysis and another one died of multi-organ failure after retransplantation because of recurrent HAT. The remaining 2 patients underwent successful retransplantation and have survived after that. Among 12 patients presented with HAS within 1 month postoperatively, 2 patients underwent retransplantation due to irreversible liver failure and another 10 patients were treated with interventions. The liver function failed to improve in 3 patients and retransplantations were performed in 4 patients after stent placement because of ischemic cholangitis. Among 6 patients undergoing liver retransplantations, two died of intracranial hemorrhage and infection respectively. Eight patients presented with HAS after 1 month postoperatively, 5 patients were treated with interventional management and recovered after stent placement. Among another 3 patients presented with HAS, 2 patients' liver function was stable and one patient received late liver retransplantation due to ischemic bile duct lesion.

CONCLUSIONSIndividualized therapeutic regimens should be adopted in treating hepatic artery complications after OLT, according to postoperative periods, types and whether ischemic bile duct lesion exists or not. Liver retransplantation is the best treatment for patients with hepatic artery thrombosis. Interventional treatments of late HAS without irreversible liver failure or bile duct ischemia are appropriate, whereas retransplantation is recommended for early HAS.

Adult ; Aged ; Constriction, Pathologic ; Female ; Hepatic Artery ; pathology ; Humans ; Liver Transplantation ; adverse effects ; Male ; Middle Aged ; Reoperation ; Retrospective Studies ; Thrombosis ; therapy

Objective:To investigate the outcome of neurological function and the clinical characteristics of complications in children with spinal cord injury. Methods:From 2011 to 2019, children under 15 years old with spinal cord injury were selected in our hospital. Their level of injury and American Spinal Injury Association Impairment Scale (AIS) at one month, three months and one year were recorded. And the complications such as pressure ulcers/scald, urinary tract infection, hydronephrosis/vesicoureteral reflux, constipation, osteoporosis/fracture, deep vein thrombosis, neurodynia, heterotopic ossification, scoliosis and hip dysplasia were analyzed. Results:Of 159 individuals, 41 were boys and 118 were girls, the average age at injury was (6.08±2.57) years. The main cause of spinal cord injury was sports accidents (47.8%), and the main injury sites were thoracic spinal cord injury (89.3%). The cause of spinal cord injury was correlated with age at injury (r = -0.160, P = 0.044), gender (r = -0.458, P < 0.001) and injury sites (r = -0.249, P = 0.002). Complete spinal cord injury counted for 71.7%, and the AIS grade at one month was correlated with that at twelve months (r = 0.984, P < 0.001). The main complications were urinary tract infection (69.2%), constipation (67.9%), hydronephrosis/vesicoureteral reflux (37.7%), scoliosis (25.8%) and hip dysplasia (25.2%). The incidence of ulcers/scald was correlated with injury site (r = 0.179, P = 0.024). The AIS grade three months after injury was significantly correlated with urinary tract infection, constipation, scoliosis and hip dysplasia (|r| > 0.227, P < 0.01). The incidence of ulcers/scald was correlated with osteoporosis/fracture (r = 0.208, P < 0.01). The incidence of urinary tract infection was significantly correlated with hydronephrosis/vesicoureteral reflux, constipation, scoliosis and hip dysplasia (r > 0.261, P < 0.001), as well as osteoporosis/fracture (r = 0.195, P < 0.05). The incidence of hydronephrosis/vesicoureteral reflux was significantly correlated with constipation, osteoporosis/fracture, scoliosis and hip dysplasia (r > 0.146, P < 0.01). The incidence of constipation was significantly correlated with scoliosis and hip dysplasia (r > 0.313, P < 0.01), as well as osteoporosis/fracture (r = 0.160, P < 0.05). The incidence of osteoporosis/fracture was significantly correlated with scoliosis and hip dysplasia (r > 0.342, P < 0.01). The incidence of scoliosis was significantly correlated with hip dysplasia (r = 0.818, P < 0.001). Conclusion:The recovery of neurological function after spinal cord injury in children is closely correlated to AIS. The outcome of complete spinal cord injury is poor. The common complications after spinal cord injury in children demonstrate specific age characteristics, and the incidence of urinary tract infection, constipation, hydronephrosis/vesicoureteral reflux, scoliosis and hip dysplasia are common complications, which need more attention.

Objective:To explore the clinical manifestations and MRI features of pediatric spinal cord injury (SCI) after back bend. Methods:A retrospective study was performed. All the medical records and MRI images of children with SCI after back bend were identified in Beijing Bo'ai Hospital from January 1st, 2002 to August 31st, 2020. Results:A total of 120 SCI children after back bend were reviewed, out of whom 119 cases were girls, one case was boy. The age ranged from 38 to 162 months, with the median age of 76 months. More cases were discovered in July and September every year (32 cases, 26.7%), as well as in weekends (67 cases, 55.8%). The main clinical manifestations were sensory and motor dysfunction of both lower limbs (120 cases, 100%), bladder and bowl incontinence (120 cases, 100%). The common first symptoms included sudden attack of lumbar pain (39 cases, 32.5%), lower limbs paralysis (30cases, 25.0%) and leg pain (10 cases, 8.3%). The peak time of symptoms ranged from five minutes to two days, with the median time of 50 minutes. The MRI features of 104 children with SCI within one week after back bend were as follows: the abnormal signals of MRI in spinal cord involved lower cervical and all the following segments of spinal cord. The number of the segments of spinal cord with abnormal signals ranged from two to 15, with the median of seven segments. The most common segments with abnormal signals were T₉ (96 cases, 92.3%), T₁₀ (96 cases, 92.3%) and T₁₁ (90 cases, 86.5%). Among the cases followed up, 48 cases with complete injury demonstrated a vast and serous spinal cord atrophy (SCA) below the injury segments as early as 37 days after the injury, the SCA would become worse at the chronic stage and maybe involve the spinal cord above the injury segments. In 31 cases with incomplete injury, the abnormal signals of MRI in spinal cord were limited in the lumbar enlargement, with a various degree of SCA at the late stage. All the cases were diagnosed as SCI without radiologic abnormality, out of whom 89 (74.2%) cases suffered from thoracic complete SCI, 31 (25.8%) cases suffered thoracic or lumbar incomplete SCI. The common complications included scoliosis, hip joint dysplasia, urinary tract infection, hydronephrosis, osteoporosis, pathological fracture of lower limbs and valgus knee. Conclusion:The main clinical symptoms of pediatric SCI after back bend were sudden lumbar pain, sensory and motor dysfunction of both lower limbs, and bladder and bowl incontinence. Most of the cases were thoracic complete SCI, the MRI features at the early stage were multiple segments of abnormal signals of spinal cord around T₉ and T₁₀, and later an extensive severe SCA below the injury segments to the conus medullaris, accompanied by the SCA above the injury segments.

Objective:To explore the etiological features and prevention strategies for pediatric spinal cord injury (SCI). Methods:A retrospective study of etiology and demographics features was performed and all the children with SCI (less than 14 years old) were identified in our hospital from January 1st, 2015 to December 31st, 2019. Results:A total of 221 children with SCI were reviewed, with 62 boys and 159 girls. The age ranged from one to 13 years with the median age of six years old. Children aged four to seven years accounted most (55.7%), and were mainly girls (83.7%). Sports and leisure activities (78 cases, 35.3%), non-traumatic causes (56 cases, 25.3%), other traumatic causes (48 cases, 21.7%), transport activities (24 cases, 10.9%) and falling from height (12 cases, 5.4%) were the top five leading causes of pediatric SCI. Among the cases caused by sports and leisure activities, 96.2% (75/78) were related to back bend in dancing exercise, in which most were five to seven years old (80.0%), and all of them were thoracic cord injury without radiologic abnormality, in which 70.7% (53/75) suffered from complete SCI. Conclusion:Pediatric SCI after back bend in dancing exercise is increasing rapidly in recent years. More attention should be paid on education about professional evaluation and the risk of back bend before dancing exercise, and more protective measures should be implemented.

Objective:To investigate the clinical characteristics of old patients with spinal cord injury. Methods:From January 1, 2013 to December 31, 2019, totally 386 old (≥ 60 years) patients with spinal cord injury were enrolled. Their gender, age, etiology, American Spinal Injury Association Impairment Scale (AIS) and complications were analyzed. Results:In the old patients with spinal cord injury, traumatic spinal cord injury was more common in males (71.17%) and non-traumatic spinal cord injury was more common in females (56.19%). Fall on level surface was the most important cause of spinal cord injury both in old men (28.83%) and women (24.76%). Tumor (19.05%) was the most common non-traumatic cause of spinal cord injury in old female patients. Cervical segment (78.46%) was the most common site of injury in old traumatic spinal cord injury, while thoracic segment (52.14%) was the most common site of injury in non-traumatic spinal cord injury. Grade D (38.08%) was the most common AIS grade, followed by grades C (28.76%), A (21.50%), and B (11.66%). Spinal canal stenosis (23.31%) played an important role in the etiology of old spinal cord injury. Neuralgia, venous thrombosis of lower extremities and urinary tract infection were the most common complications in old patients with spinal cord injury. Conclusion:Fall on level surface is the leading cause of spinal cord injury in old patients, and the proportion of fall in the etiology of old spinal cord injury tends to increase with age. It is important to take effective measures to avoid falling in the old adults to prevent spinal cord injury.