Objectives To explore the clinical features, diagnosis and treatment of Crohn’s disease complicated by erythromelalgia (EM) in a pediatric case. Methods The clinical manifestation, results of laboratory testing and endoscopy, mutational analysis of the SCN9A gene, and the follow-up record were collected and analyzed based on review of literature to a thirteen-year-old girl with Crohn’s disease complicated by erythromelalgia. Results The patient experienced symptoms of anorexia, fatigue, diarrhea, dark red and swelling skin, increased skin temperature and burning pain in her both lower extremities during the course of disease. The endoscopic ifndings included multiple ulcerations and polypoid protrusion lesion in colon, and the pathological examination showed the local abscess formation in colonic mucosa. The mutation in SCN9A gene of the child was excluded by gene analysis. The symptoms were gradually ameliorated after treatment using prednisone and mesalazine combined with dipyridamole and low-molecular-weight heparin calcium. Conclusions Crohn’s disease complicated by erythromelalgia is rare. The pathogenesis may relate to immune factors, thrombocytosis, and hyper-coagulable states, etc. The combination of glucocorticoids, 5-aminosalicylic acid and anticoagulants may lead to a better therapeutic effect.

Objective:To explore the changes in the diffusion tensor imaging (DTI) parameters of the pontocerebellar tract 3 months and one year after ischemic stroke and analyze the data′s potential for predicting long-term motor outcomes.Methods:Thirty patients with middle cerebral artery infarction were prospectively studied using DTI within 3 months and 1 year after the onset. A region of interest-based analysis was performed for the fractional anisotropy (FA) of the middle cerebellar peduncles (MCP) in the pontocerebellar fibers (PCF). Neurological functioning was evaluated using the National Institutes of Health Stroke Scale and the degree of paresis was assessed at the same time using paresis grading. At one year after the onset, balance function, functional prognosis and self-care ability were evaluated using the Brunel Balance Scale, the modified Rankine Scale and the Functional Independence Scale respectively.Results:The average FA on the healthy side 3 months and 1 year after onset was significantly less than on the affected side at each time point. The ratio of the FA of the affected side to that of the unaffected side (rFA) in the PCF correlated significantly with the average paresis scores of the lower and upper extremity and the total paresis score at each time point. Moreover, the rFA of the PCF was significantly correlated with the average functional independence score, the prognosis for the upper and lower extremities as well as motor functioning. The area ratio under the ROC curve of the PCF for predicting lower extremity motor outcome was 0.84, and the optimal threshold was 0.92 (sensitivity 71.4%, specificity 73.9%). The area ratio under the ROC curve was not a significant predictor of upper extremity motor outcome.Conclusion:The DTI parameter rFA of the PCF in patients with subacute middle cerebral artery infarction can help to predict the long-term recovery of motor ability. It can serve as an important reference index for predicting the long-term motor ability of the lower limbs.

Objective To determine the utility of musculoskeletal ultrasound imaging to support physical findings in different stages of recovery and in recommending treatment regimens.Methods Forty-three hemiplegic stroke survivors with shoulder pain were enrolled.Physical examinations were performed 3 and 6 months after the stroke using a visual analogue scale (VAS),a modified Ashworth scale,measurements of passive range of motion and Brunnstrom staging.This was coupled with sonography of the long head of the biceps,the subscapularis tendon,the supraspinatus tendon,the infraspinatus tendon,the acromioclavicular joint and the subacromial-subdeltoid bursa.Results Three months after the stroke the average VAS score correlated negatively with the average Brunnstrom stage of the shoulders (r=-0.39,P≤0.01),with the range of passive abduction (r=-0.56,P≤ 0.01),the range of passive external rotation (r=-0.36,P≤ 0.02),and the range of passive flexion (r=-0.37,P≤ 0.02).It was positively correlated with abnormal sonographic findings of the long head tendon of the biceps (r=0.32,P≤ 0.04),the subscapularis tendons (r=0.31,P≤0.04) and the supraspinatus tendons (r=0.53,P≤0.01).However,3 months later the VAS results were negatively correlated with Brunnstrom stage (r=-0.45,P ≤ 0.01),range of passive shoulder abduction (r=-0.60,P≤0.01),range of passive external rotation (r=-0.41,P≤0.01),and passive range of flexion (r=-0.52,P≤ 0.01),but positively correlated with spasticity (r=0.34,P≤ 0.03),biceps tendinopathy (r=0.45,P≤0.01),subscapularis tendinopathy (r=0.33,P≤ 0.03) and supraspinatus tendinopathy (r=0.56,P≤ 0.01).Rotator cuff injury was significantly more severe 6 months after stroke than at 3 months.The incidence of pain in the hemiplegic shoulder and abnormal sonographic findings of the biceps tendon and subscapularis tendon were significantly higher at 6 months than at 3 months after the stroke.Supraspinatus tendon problems were notable both at 3 and 6 months.Conclusions Pain in a hemiplegic shoulder is positively correlated with abnormal sonographic findings but negatively correlated with Brunnstrom stages and passive range of motion 3 and 6 months after stroke.Six months after stroke,pain is positively correlated with muscle tone.The tendon at the long head of the biceps and the rotator cuff are vulnerable to injury,especially at 6 months after stroke.

OBJECTIVETo evaluate a devascularization technique for hypervascular tumors of the head and neck by direct intratumoral puncture.

METHODSSix cases of hypervascular tumor of the head and neck were reviewed, focusing on findings from digital subtraction angiography and preoperative direct intratumoral embolization and their effects after the operation.

RESULTSTotal devascularization by complete embolization was achieved in 2 cases: 1 nasopharyngeal angiofibroma and 1 spongiform tumor, both of which were completely excised endoscopically with blood loss of 60 ml. Incomplete devascularization through 80% - 90% embolization was achieved in the other 4 cases: 1 paraganglioma was totally removed with 800 ml of blood loss, 1 hemangioblastoma was not completely excised with 400 ml of blood loss and 2 nasopharyngeal angiofibromas involving the intracranial region were partially eliminated with a total blood loss of 1600 ml.

CONCLUSIONThe new technique of preoperative embolization of hypervascular tumors of the head and neck by direct intratumoral puncture, which can decrease blood loss during the accompanying tumor resection and increase the possibility of complete tumor removal, is feasible, convenient, safe, and effective.

Adolescent ; Adult ; Aged ; Child ; Embolization, Therapeutic ; methods ; Female ; Head and Neck Neoplasms ; blood supply ; therapy ; Humans ; Male ; Middle Aged

Objective To establish a method for rapid detection of JWH-018, JWH-250 and AM-2201 in blood by direct analysis in real-time coupled with tandem mass spectrometry. Methods These samples were extracted by acetonitrile-methanol (4:1), using DART 12Dip-it automatic sampling system. They were analyzed by positive ion and MRM mode. Results The detection limits of JWH-018, JWH-250 and AM-2201 were in good linearity in the range of 0.02-5.00μg/mL. The correlation coefficients were above 0.99 and the detection limits were 0.016μg/mL, 0.003μg/ mL and 0.017μg/mL, respectively. The intra-day and inter-day RSD were less than 15%. Conclusion The method has the advantages of high sensitivity and good accuracy. The sample processing is simple and can be analyzed in short time. This method is suitable for the analysis of JWH-018, JWH-250 and AM-2201 in practical cases.

OBJECTIVETo analyze clinical manifestations and genetic mutation in a child with severe short stature and other malformations.

METHODSThe child has undergone history taking and physical examination. Genome DNA was extracted from peripheral blood samples of the proband and her family members. Candidate genes were captured with Agilent SureSelect and sequenced on an Illumina platform. Suspected mutation was verified by Sanger sequencing.

RESULTSThe patient, a six-year-and-10-month old girl, presented with non-symmetrical short stature, dysmorphism, abnormalities of limbs and spine, amblyopia of left eye, and cataract of right eye, in addition with frequent respiratory infection and micturition. Laboratory testing suggested 25-hydroxy vitamin D deficiency (18.9 ng/mL). Spine X-ray showed multiple malformations with centrums. Her mother also featured short stature (138 cm). Her aunt had short stature (130 cm) and limb-length discrepancy. Her little brother was 2.5 years old, and his height was 81 cm (-3.4 SD). Exome sequencing revealed a heterozygous mutation c.184C to T (p.Arg62Trp) in the proband and her mother. The same mutation was not found in her father and brother.

CONCLUSIONThe patient was diagnosed with X-linked chondrodysplasia punctata 2. Mutation of the EBP gene probably underlied the disease in this family.

OBJECTIVETo analyze the clinical characteristics of Mycoplasma pneumoniae-associated hemophagocytic syndrome (MP-HLH).

METHODA retrospective investigation of the clinical manifestation, laboratory test, imagelogy, clinical course and outcome of 3 cases with MP-HLH seen between June 2013 and July 2013 in Shenzhen Children's Hospital, and review of relevant literature were conducted.

RESULTOf the 3 cases of MP-HLH, 2 were males, one was female, the ages were 1 year, 3 years and 6 years, respectively. They had no underlying disease previously. All the 3 cases had onset of fever, cough as main symptoms. Diagnosis of refractory Mycoplasma pneumoniae pneumonia was made, which was accompanied by decreased neutrophils [(0.08-0.68)×10(9)/L], hemoglobin [(79-103) g/L], platelet [(64-157)×10(9)/L], plasma fibrinogen [(1.3-1.5) g/L], lactate dehydrogenase [(1,170-1,285) U/L] and increased serum ferritin [(936.7-39 789.0) µg/L] in the third week of course. In two cases the T lymphocytes decreased, and the NK cell activity decreased significantly in one. Bone marrow cytology showed prompted bone marrow hyperplasia, and the phenomenon of phagocytosed blood cells. CT scan was performed for all the cases and consolidation with pleural effusion were shown. Two cases were admitted to PICU, and required endotracheal intubation and mechanical ventilation. Flexible bronchoscopy and bronchial lavage were performed and bronchial cast was found in two cases. All of them were treated with macrolide combined with other antibiotics, glucocorticoids and gamma globulin combination therapy, including one case given dexamethasone [10 mg/(m2·d)], cyclosporine[6 mg/(kg·d)], etoposide [150 mg/(m2·d)] chemotherapy. Two cases were cured, and 1 case died. The authors summarized the 18 cases reported in domestic and foreign literature. Foreign children were diagnosed and treated with steroids in 1-2 weeks, and 10 cases were cured, and 2 cases died. They died of massive hemorrhage and meningoencephalitis, and domestic children were diagnosed and treated within two to 4 weeks after onset, 5 cases were cured, one case died of severe pneumonia.

CONCLUSIONMP-HLH is a rare disease in children, and had acute onset, rapid progression and high mortality. Early treatment with steroids was associated with a good prognosis, the key to successful treatment is early diagnosis and treatment, avoiding the immune cascade. Too late a diagnosis or development of serious complications may lead to death.

Anti-Bacterial Agents ; therapeutic use ; Bronchoalveolar Lavage Fluid ; Bronchoscopy ; Child ; Child, Preschool ; Fatal Outcome ; Female ; Fever ; Glucocorticoids ; therapeutic use ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; drug therapy ; microbiology ; Macrolides ; therapeutic use ; Male ; Mycoplasma pneumoniae ; isolation & purification ; Pleural Effusion ; Pneumonia, Mycoplasma ; complications ; diagnosis ; drug therapy ; Respiration, Artificial ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome

Objective: To determine the subcortical areas associated with post-stroke dysphagia and its recovery using diffusion tensor images. Methods: Ten patients with middle cerebral artery lesions and dysphagia were selected into the dysphagia group, while another 10 counterparts without dysphagia were chosen for the non-dysphagia group. The ratios of diffuse anisotropy (rFAs) in eleven regions of interest (ROIs) on both the healthy and affected sides were recorded and compared between the two groups. One and 3 months later, the rFA values of the dysphagia group were again measured and the rFAs were related with dysphagia outcomes and severity using Spearman correlation analysis. Results: Comparing the rFAs of the 11 ROIs between the two groups revealed significant differences between the insulae of the dysphagia group and the non-dysphagia group. Three months later the rFA values of the insulae, cerebral peduncles and superior cerebellar peduncles had increased significantly in the dysphagia group. The average dysphagia outcome and severity score of the dysphagia group was significantly lower one month after the treatment than 3 months later. Moreover, the outcome and severity score was found to be significantly correlated with the rFA values of the insulae and of the superior cerebellar peduncles one month after the treatment, but with that of the cerebral peduncles only after 3 months. Conclusion Dysphagia within one month of the onset of infarction is related to the insulae, the cerebral peduncles and the superior cerebellar peduncles. After 3 months it is associated with the cerebral peduncles.