BACKGROUND: Clinical evidence have proved that heterotopic ossification is easily present in bony callus of patients with fracture combined with head injury, and the healing of bone fracture is accelerated obviously. OBJECTIVE: To study the expression and distribution of vascular endothelial growth factor (VEGF) in bony callus among the patients with fracture combined with head injury and simple fracture patients, and to investigate its clinical significance and action mechanism.DESIGN, TIME AND SETTING: Grouping controlled observation was performed in the Xijing Hospital, the Fourth Military Medical University of Chinese PLA between February 2006 and July 2007.PARTICIPANTS: The patients comprised two groups those who had fracture combined with head injury and those who had simple fracture. Each group had 50 patients. The fracture combined head injury group included 41 males and 9 females, aged 19-55 years; simple fracture group included 36 males and 14 females, aged 17-52 years. METHODS: The bony callus specimens were harvested at 7-10, 11-15, 16-20, 21-27 and 28-35 days post-injury. The content of VEGF in bony callus was measured at different phase by using immunohistochemistry methods, and the speed of fracture healing was also observed.MAIN OUTCOME MEASURES: ①X-ray results; ②immunohistochemical image analysis. RESULTS: In different phase of bone healing, the VEGF of the two groups were homogenous, the early expression of VEGF in osteoprogenitor cell, osteoblast and cartilage cell in the fracture combined with head injury group was significantly higher than those in simple fracture group. The osteoprogenitor cell proliferated, and the differentiations of osteoblast and cartilage cell were enhanced obviously. The VEGF level reached the peak at 7-10 days, and kept at the high level for 30 days and then gradually decreased. The peak of VEGF level in simple fracture group came at 11-15 days, kept in the high level for 20 days and then gradually decreased. The peak value in simple fracture group was significantly lower than the fracture combined with head injury group. There was statistical significance in the expression of VEGF between two groups by the paired t-test (P < 0.05). A large mount of osteotylus could be detected at 4 weeks after injury by X-ray in patients with fracture combined, with head injury, but at 7-9 weeks in patients of those who had simple fracture.CONCLUSION: The expression of VEGF in the bony callus in the group of fracture combined with head injury is significantly greater than that in simple fracture patients, and the expression lasts for a longer time. The proliferation and differentiation of osteogenitor call, osteoblast and cartilage cell are also significantly faster in the group of fracture combined with head injury, which might be one of the bone healing mechanisms.

Objective To enhance clinicians' intention to the importance of early diagnosis,early therapy and follow-up of type Ⅱ citrullinemia.Methods The clinical data of one adult-onset type Ⅱ citrullinemia pedigree were collected. The gene mutation type of SLC25A13 of proband and her daughter were determined by PCR and direct gene sequencing.Results The patient was a 27 years-old female,who complained of repeated dizziness, vomiting for more than 2 years and recurrent attacks of altered consciousness for about one and a half year.An abdominal ultrasonogram,liver magnetic resonance imaging and liver histology obtained by needle biopsy all determined the liver pathological changes of liver cirrhosis.Electroencephalogram showed sharp waves. The plasma amino acid showed a marked elevation of blood citrulline.Laboratory findings revealed a highly increased concentration of plasma ammonia during every episode. Mutation analysis of the SLC25A13 gene identified a homozygote of 851del4 in the patient,and heterozygote of 851del4 in her daughter. Conclusions For adults,unexplained dizziness,vomiting,but liver function still in the compensation,especially accompanied by neuropsychologic symptoms are highly suggestive of adult-onset type Ⅱ citrullinemia.SLC25A13 gene analysis contributes to the diagnosis of this disease,avoids invasive investigations and early confirmation of this disease means long-term dietary advice,genetic counseling,medical surveillance and early preparation for liver transplantation if is necessary.

Objective To investigate the efficacy of capsaicin combined with repetitive transcranial magnetic stimulation(rTMS)in the treatment of dysphagia after stroke.Methods A total of 85 stroke patients with dysphagia and no true bulbar palsy were included and divided into 3 groups by random number table method:the capsaicin group(28 cases),the rTMS group(29 cases)and the capsaicin combined with rTMS group(28 cases).On the basis of conventional rehabilitation treatment,patients of the capsaicin group were given capsaicin to stimulate oropharynx 3 times a day(30 min before breakfast,lunch and dinner)for 6 days/week.Patients of the rTMS group were given S1 hot spot magnetic stimulation of the primary somatosensory cortex on the healthy side,once a day,6 times a week,and patients of the capsaicin combined with rTMS group were treated with capsaicin combined with S1 hot spot magnetic stimulation.The treatment course of the 3 groups was 3 weeks.Before and after treatment,patients were evaluated by WST,SSA,EAT-10 and VFSS,respectively,to determine the degree of improvement in their swallowing function.Results There were no significant differences in WST,SSA,EAT-10 and VFSS scores before treatment between the 3 groups,and the above indexes were improved after treatment in the 3 groups.The improvement in the capsaicin combined with rTMS group was more obvious than that of the other 2 groups(P＜0.05).Conclusion Capsaicin combined with rTMS can significantly improve swallowing function of patients with swallowing disorder after stroke compared with capsaicin or rTMS alone.

OBJECTIVETo study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).

METHODSClinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.

RESULTSThe male proband onset with walking dysfunction at 19 months, arylsulfatase A activity of leucocyte from his peripheral blood was 20.2 nmol/mg.17h, and his cranial MRI showed wildly symmetrical demyelination. Homozygosis for novel c.622delC (p.His208Metfs46X) in exon 3 of ARSA gene was identified in proband, and heterozygous for the same mutation in parents and grandma of the proband.

CONCLUSIONLate infantile metachromatic leukodystrophy is characterized by rapid and progressive regression of neuropsychiatric and motor development. There is a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the ARSA gene and the phenotype presenting as O/O patients.

Base Sequence ; Cerebroside-Sulfatase ; deficiency ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Leukodystrophy, Metachromatic ; diagnostic imaging ; enzymology ; genetics ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Radiography ; Sequence Deletion

Ischemic stroke (IS) is a kind of cerebrovascular disease caused by temporary or permanent decrease in local cerebral blood flow. The research of this disease by revealing its pathophysiological process and exploring new therapeutic targets from the cellular and molecular levels has always been the hot spot. In recent years, the competing endogenous RNA (ceRNA) regulatory network mediated by long non-coding RNA (lncRNA) has been proved to play a key role in the pathology and physiology of IS, which can effectively improve the diagnosis, treatment and prognosis of IS. This article aims to describe the mechanism of micro RNA (miRNA) and lncRNA in IS and the role of lncRNA as miRNA's ceRNA in the cell apoptosis, cell viability, angiogenesis, inflammatory response, oxidative stress, and neuroprotection of IS patients, in order to broaden the vision of the occurrence and development of IS and provide new ideas for its diagnosis and treatment.

Objective: To evaluate the short-term outcomes and safety of submucosal tunneling endoscopic resection (STER) for submucosal tumors (SMT) originating from muscularis propria (MP) layer at esophagogastric junction. Methods: The clinical data of 31 patients with SMT originating from MP layer at esophagogastric junction underwent STER were collected and retrospectively analyzed. Results: The success rate of STER of the thirty-one patients was 100%. The mean tumor size was (2.5±1.3) cm and the average operative time was (95.9±56.7) min. Perforation occurred in 3 patients and was successfully clipped by endo-clips during operation. One patient developed delayed bleeding and the bleeding was stopped by endoscopic hemostasis. Twenty-nine leiomyomas and two stromal tumors (GIST) were finally pathologically diagnosed. No local recurrence and distant metastasis were noted during the mean 15.4 months follow-up of 20 cases. According to the lesion size, 31 patients who received STER were divided into two groups. The operation time of maximum diameter ≥3.5 cm group was (134.0±70.6) min, significantly longer than (80.3±42.6) min of maximum diameter <3.5 cm group (P=0.014). However, the en bloc removal rate, postoperative hospital stay and the complication incidence between the two groups had no obvious differences (P>0.05). Univariate analysis showed that the piecemeal removal group had longer tumor diameter, higher incidence of irregular tumor morphology, and longer operative time than the en bloc removal group (all P<0.05). Stepwise logistic regression analysis showed that irregular shape was a risk factor for failure of en bloc removal (OR=18.000, 95% CI: 1.885~171.88, P=0.012). Conclusion As a new method of minimally invasive treatment, STER technology appears to be a safe and effective option for patients with SMT originating from MP layer at esophagogastric junction.