Background:Fibroscan is the noninvasive method widely used to evaluate quantitatively the liver fibrosis and monitor the long-term efficacy of anti-fibrosis therapy. Aims:To study the use of Fibroscan for evaluating the efficacy of combined therapy with FuFang BieJia RuanGan tablet and antiviral drugs in patients with hepatitis B virus( HBV)-related cirrhosis. Methods:A total of 90 patients with HBV-related cirrhosis from March 2013 to September 2014 at Shanghai Ren Ji Hospital were recruited,and divided into treatment group and control group. Patients in treatment group received FuFang BieJia RuanGan tablet,and patients in control group received conventional liver-protective drugs,all the patients took nucleoside antiviral drugs at the same time. The treatment courses in both groups were 6 months. Liver stiffness measurement( LSM)was detected by Fibroscan before and after treatment. Biochemical parameters,width of portal vein and clinical symptoms were recorded. Results:After treatment,LSM was significantly decreased in both groups( P <0.05). Liver function,width of portal vein and Child-Pugh score were improved in both groups(P <0. 05),and no significant differences were found between the two groups(P>0. 05). LSM was closely associated with Child-Pugh score both before and after treatment(r=0. 484,P<0. 01;r=0. 523,P<0. 01). Patients with Child-Pugh A had lower LSM than those with Child-Pugh B or Child-Pugh C(P<0. 01). Conclusions:FuFang BieJia RuanGan tablet combined with oral antiviral drugs can remarkably improve the liver function of cirrhotic patients and prevent progression of cirrhosis. Dynamic detection of LSM can be used for monitoring drug efficacy and disease progression in patients with cirrhosis.

Background:Q fever endocarditis,a chronic illness caused by Coxiella burnetii,can be fatal if misdiagnosed or left untreated.Despite a relatively high positive rate of Q fever serology in healthy individuals in the mainland of China,very few cases of Q fever endocarditis have been reported.This study summarized cases of Q fever endocarditis among blood culture negative endocarditis (BCNE) patients and discussed factors attributing to the low diagnostic rate.Methods:We identified confirmed cases of Q fever endocarditis among 637 consecutive patients with infective endocarditis (IE) in the Peking Union Medical College Hospital between 2006 and 2016.The clinical findings for each confirmed case were recorded.BCNE patients were also examined and each BCNE patient's Q fever risk factors were identified.The risk factors and presence of Q fever serologic testing between BCNE patients suspected and unsuspected of Q fever were compared using the Chi-squared or Chi-squared with Yates' correction for continuity.Results:Among the IE patients examined,there were 147 BCNE patients,of whom only 11 patients (7.5％) were suspected of Q fever and undergone serological testing for C.burnetii.Six out of 11 suspected cases were diagnosed as Q fever endocarditis.For the remaining136 BCNE patients,none of them was suspected of Q fever nor underwent relevant testing.Risk factors for Q fever endocarditis were comparable between suspected and unsuspected patients,with the most common risk factors being valvulopathy in both groups.However,significantly more patients had consulted the Infectious Diseases Division and undergone comprehensive diagnostic tests in the suspected group than the unsuspected group (100％ vs.63％,P =0.03).Conclusions:Q fever endocarditis is a serious yet treatable condition.Lacking awareness of the disease may prevent BCNE patients from being identified,despite having Q fever risk factors.Increasing awareness and guideline adherence are crucial in avoiding misdiagnosing and missed diagnosing of the disease.

Objective To analyze the clinical characteristics,muscle pathological features and pathogenic gene mutation in 4 cases with LMNA-related congenital muscular dystrophy (L-CMD).Methods Clinical data of the probands and the parents were collected.Skeletal muscle specimens were biopsied from the probands for pathological analysis.Genomic DNA and RNA were extracted from peripheral blood leukocytes,and PCR,reverse transcription(RT)-PCR and DNA direct sequencing were employed to analyze the LMNA gene to determine the gene mutation and confirm the pathogenicity.Results Four patients had symptoms from fetal period to several months after birth.They presented with motor retardation,muscle weakness with prominent the proximal upper limbs,distal lower limbs and neck extensor,hypotonia,contractures,with mild to moderate elevation of CK level.The muscle biopsies showed muscular dystrophic and with inflammatory changes,and the abnormal nuclear morphology was observed with transmission electron microscopy.Genetic analysis of them detected 4 dominant de novo mutations.Three of them had unreported pathogenic mutations.The same sites of the LMNA gene were wild type in their parents.Conclusions Four cases of L-CMD are genetically identified.Genetic counseling of the family can be possible.The patients should be considered LMNA gene mutation of they present themselves with muscle weakness with the proximal upper limbs,distal lower limbs and neck extensor,hypotonia,contractures,mild to moderate elevation of CK level,and if the biopsies show muscular dystrophic changes but also with inflammatory changes should be considered LMNA gene mutation.Genetic analysis is the most reliable method for diagnosing L-CMD.

OBJECTIVETo study the microsurgical method of repairing skin and soft tissue defects on head, face, and neck.

METHODSThirty-one patients with skin and soft tissue defects on the head, face, or neck were hospitalized from July 2007 to May 2010, including 10 cases of scalp defects, 4 cases of skin and soft tissue defects on face, and 17 cases of skin and soft tissue defects on neck. Among them, the cause in 20 cases was trauma, and in 11 cases they were secondary to release of cicatricial contraction. Free flaps were transplanted to repair the wounds, including 13 latissimus dorsi flaps, 3 lateral thoracic flaps, 5 scapular flaps, and 10 anterolateral thigh flaps. The area of flaps ranged from 8 cm × 5 cm to 25 cm × 18 cm.

RESULTSAll flaps survived, and all the wounds healed by first intention. The average length of hospital stay was 16.7 days. Twenty-eight patients were followed up for 2 months, and in all of them satisfactory function and appearance were restored.

CONCLUSIONSFree flap graft based on microsurgery can repair wound of skin and soft tissue defects on head, face and neck by a single operation, which eases suffering of patients, and shortens the length of hospital stay.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Head ; Humans ; Male ; Microsurgery ; Middle Aged ; Neck ; Reconstructive Surgical Procedures ; methods ; Skin ; injuries ; Skin Transplantation ; Soft Tissue Injuries ; surgery ; Surgical Flaps ; Young Adult

To explore new measures for functional reconstruction of multiple severe deformities as a result of extensive deep burn (total burn surface area > or = 90% TBSA, including deep burn > or = 70%TBSA) in late stage. Twelve severe burn patients with above-mentioned deformities were hospitalized in our ward during 1960--2005, the scars resulted from burns were distributed from head to foot with 173 deformities, including 27 scar ulcers. All patients lacked of self-care ability, among them some could not stand. Due to inadequate skin source, deformities were corrected by skin from matured scars expanded with subcutaneous balloon at late postburn stage. Following our former clinical experience, anatomic investigation and experimental research, we chose the following methods to correct deformities and restore functions: application of split-thickness scar skin after expansion (88 wounds); use of scar skin flap/scar-Achilles tendon flaps (59 wounds); combination of thin split-thickness skin grafts from scar and allogeneic acellular dermal matrix (composite skin, 40 wounds). All grafts survived, the appearance and function were improved obviously without complications. Follow-up 1-40 years, all patients could take care themselves with satisfactory function and appearance, and among them 8 patients returned to work (one had worked for 40 years), 2 patients married and had children. The above-mentioned measures are safe, reliable and effective for functional reconstruction of deformities.
Adult ; Burns ; complications ; surgery ; Cicatrix ; etiology ; surgery ; Contracture ; etiology ; surgery ; Female ; Humans ; Male ; Middle Aged ; Reconstructive Surgical Procedures ; methods ; Recovery of Function ; Skin Transplantation ; Skin, Artificial ; Surgical Flaps ; Wound Healing

OBJECTIVETo assess the value of multiplex PCR-denaturing high-performance liquid chromatography (PCR-DHPLC) method for screening large duplications or deletions in patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA).

METHODSDNA was extracted from peripheral venous blood samples from 35 DMD and 6 SMA patients. Large duplications or deletions were screened with multiplex PCR coupled with DHPLC method. The results were validated with testing of positive and negative controls.

RESULTSKnown duplications or deletions in all controls were reliably detected with multiple PCR coupled with DHPLC. Large duplications or deletions were found in 71.4% of 35 DMD patients, which included 5 large duplications and 20 large deletions. For SMA patients, deletions of SMN1 exon 7 were detected in 16 samples.

CONCLUSIONMultiplex PCR coupled with DHPLC method is an effective and reliable method for detecting large genomic duplications or deletions in patients with DMD or SMA.

Chromatography, High Pressure Liquid ; Dystrophin ; genetics ; Gene Deletion ; Gene Duplication ; Humans ; Multiplex Polymerase Chain Reaction ; Muscular Atrophy, Spinal ; diagnosis ; genetics ; Muscular Dystrophy, Duchenne ; diagnosis ; genetics ; Survival of Motor Neuron 1 Protein ; genetics

Alteration in the balance between cell apoptosis and proliferation is one of the pathophysiological mechanisms of the myelodysplastic syndromes (MDS). The question of whether the excessive apoptosis and/or proliferation predominantly involve the subset of progenitor cells (CD34(+) cells) or mature cells (CD34(-) cells) remains a controversial issue. This study was purpose to analyze the apoptosis and proliferation status of CD34(+) and CD34(-) cells in bone marrow (BM) of patients with MDS, to investigate the pathogenesis of MDS and to determine the relation of apoptosis and proliferation status of CD34(+) and CD34(-) cells with prognosis of MDS. The proportion of CD34(+) cells, the apoptosis and proliferation ratio (A/P) of CD34(+) and CD34(-) cells in BM of 40 patients with MDS, including 20 cases of high-risk MDS and 20 cases of low-risk MDS, and 10 normal persons as control were detected by flow cytometry; the influence of CD34(+) and CD34(-) cell apoptosis and proliferation levels on prognosis of MDS was evaluated by univariate and multivariate analysis of survival. The results showed that the proportion of CD34(+) cells in BM of high-risk MDS patients was significantly higher than that in BM of low-risk MDS patients and in normal BM [(1.92 ± 0.10)%, (1.09 ± 0.04)%, (1.03 ± 0.05)% respectively]. The apoptotic rates (AR) of both CD34(+) and CD34(-) cells were significantly higher in low-risk MDS [(54.75 ± 2.18)%, (80.36 ± 1.68)%] than in high-risk MDS [(24.87 ± 2.69)%, (23.12 ± 1.23)%] and in normal BM [(18.51 ± 2.74)%, (20.98 ± 2.21)%]. When compared between CD34(+) cells and CD34(-) cells in low-risk MDS, a greater AR of CD34(-) cells was found. However, the higher proliferative rate of CD34(+) cells was observed in high-risk MDS. In low-risk MDS, a higher A/P ratio was found in CD34(-) cells than in CD34(+) cells; whereas this ratio was equalized or inverted in high-risk MDS. In addition, the survival and prognosis correlated significantly with AR of CD34(+) cells. It is concluded that the early MDS is predominantly associated with excessive apoptosis of the mature CD34(-) cells. The proliferation rate of cells increases with the disease progression in MDS subsets, especially, in the subset of CD34(+) cells. Surprisingly, the apoptosis of CD34(+) cells may be a useful prognostic factor, and the inhibition of apoptotic mechanisms may induce the transformation of MDS to leukemia.
Adolescent ; Adult ; Aged ; Antigens, CD34 ; Apoptosis ; Bone Marrow Cells ; immunology ; pathology ; Case-Control Studies ; Cell Proliferation ; Child ; Female ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; mortality ; pathology ; Prognosis ; Survival Rate ; Young Adult

OBJECTIVETo observe the therapeutic effects of Le Fort III osteotomy and midface distraction osteogenesis (DO) on the upper-airway narrow.

METHODSSince 2000, 11 cases (10 cases of Crouzon syndrome and 1 case of Apert syndrome) with severe midface deficiency were treated with Le Fort III osteotomy and midface DO. The section area of different parts of upper-airway were tested by computer assistants image measurement preoperatively and postoperatively. Some patients received sleep function monitoring.

RESULTSThe face appearance and the function of upper-airway improved significantly after Le Fort III osteotomy and Midface DO. The section area at the level of posterior nasal spine and uvula increased obviously after treatment (P < 0.05), however the section area at the level of epiglottis and separation between airway and esophagus were not obviously enlarged (P > 0.05).

CONCLUSIONSMidface DO after Le Fort III osteotomy can effectively improve the upper-airway narrow, especially the upper part from uvula.

Adolescent ; Airway Obstruction ; etiology ; surgery ; Child ; Child, Preschool ; Craniofacial Dysostosis ; complications ; surgery ; Epiglottis ; pathology ; Female ; Humans ; Male ; Nasopharynx ; pathology ; Osteotomy, Le Fort ; methods ; Palate, Soft ; pathology ; Postoperative Period ; Sleep Apnea, Obstructive ; etiology ; surgery ; Treatment Outcome

OBJECTIVETo evaluate the relationship between idiopathic Parkinson's disease (PD) and two polymorphisms (C243G and A377T) of the gamma-synuclein gene in a Chinese Han population of Shanghai area.

METHODSPolymorphic genotyping was performed with PCR-RPLP technique. Association analysis was carried out in 145 unrelated idiopathic PD patients and 184 age-matched healthy controls.

RESULTSThe authors failed to detect any distributional difference of the C243G and A377T polymorphisms of the gamma-synuclein gene between PD cases and control subjects, nor did they find any association.

CONCLUSIONThese data do not support that gamma-synuclein gene C243G and A377T polymorphisms are involved in idiopathic PD onset in the Han population of Shanghai area.

Adult ; Aged ; Aged, 80 and over ; Alleles ; Gene Frequency ; Genotype ; Humans ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Parkinson Disease ; genetics ; Polymorphism, Single Nucleotide ; Synucleins ; gamma-Synuclein

To explore the dynamic change of CD34(+) cell expressing adhesion molecules in bone marrow and peripheral blood during mobilization with combination of chemotherapy and G-CSF and its clinical significance, mononuclear cells of bone marrow and peripheral blood from malignant hematopathy cases before and after mobilization with G-CSF were labeled by CD45-CY-Chrome, PE conjugated anti-CD34, and FITC conjugated anti-CD44, anti-CD49d, anti-CD62L and anti-CXCR4. For three-color fluorescence analysis by flow cytometry was performed on a FACScalibur. Also the relationship between the number of subpopulations in different expressions of adhesion molecules infused and the time of recovery in different blood cells after transplantation was evaluated. Results showed that a significantly lower expression of CD44(+) and CD49d(+) on CD34(+) cells in bone marrow after mobilization compared to that before mobilization, whereas great higher expression of CD44(+), CD49d(+), anti-CD62L(+) and lower of anti-CXCR4(+) in peripheral blood were observed after mobilization. No significant relations were found between expression of different adhesion molecules on CD34(+) cells infused and the time of reconstitution in blood cells after transplantation. It was concluded that this mobilizing regimen could downregulate the expressions of CD44, CD49d, CD62L, and anti-CXCR4 on CD34(+) cells in bone marrow, it may related to mobilization of CD34(+) cells from marrow to blood, and homing of blood CD34(+) cells into marrow.
Adolescent ; Adult ; Antigens, CD34 ; immunology ; Bone Marrow Cells ; immunology ; metabolism ; Cell Adhesion Molecules ; biosynthesis ; blood ; Female ; Flow Cytometry ; methods ; Granulocyte Colony-Stimulating Factor ; therapeutic use ; Hematologic Neoplasms ; immunology ; metabolism ; therapy ; Hematopoietic Stem Cell Mobilization ; Hematopoietic Stem Cell Transplantation ; Hodgkin Disease ; immunology ; metabolism ; therapy ; Humans ; Hyaluronan Receptors ; biosynthesis ; Integrin alpha4 ; biosynthesis ; L-Selectin ; biosynthesis ; Leukocytes, Mononuclear ; immunology ; metabolism ; Lymphoma, Non-Hodgkin ; immunology ; metabolism ; therapy ; Male ; Middle Aged ; Multiple Myeloma ; immunology ; metabolism ; therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; immunology ; metabolism ; therapy