Objective To explore the clinical features of Marfan syndrome (MFS) and its virulence gene mutation of FBN1.Methods Clinical data of 2 children with MFS were retrospectively analyzed, and pertinent literatures were reviewed. Results Case one was a 1 year and 10 months old boy with a special face, bilateral lower eyelid edema, high palatal arch, slender fingers and toes. A little of moist rales in lung could be heard, and systolic accentuated in apex could be heard too. Echocardiography showed that aortic coronary sinus dilated, aorta and pulmonary artery broadened, left ventricular diverticulum, a small amount of mitral regurgitation,and moderate tricuspid regurgitation. Electrocardiogram showed incomplete right bundle branch block. Gene detection found a c.3037G>A mutation (p.Gly1013Arg) inFBN1. Case two was a 12 years old slender boy with spider-like ifnger/toe, high myopia, 2/6 systolic and diastolic murmur in the ifrst and two auscultation area in aortic valves. Echocardiography showed the aortic sinus signiifcantly broadened, aortic incompetence, mild pulmonary regurgitation and left ventricular enlargement. Gene detection found heterozygous mutation of c.1876G>A (p.Gly626Arg) in FBN1, which has not been reported.Conclusion The diagnosis of MFS can be conifrmed byFBN1 gene detection. A new mutation of c.1876G>A (p.Gly626Arg) was detected.

Objective To investigate the association between MPO gene single nucleotide polymorphisms (SNP) loci (rs2333227,-643G/A) and clinical characteristics in Kawasaki disease (KD) in Han population in central China. Methods A case-control study was performed. Two hundred and thirty-seven children with KD and 249 normal children were recruited. The polymorphism distribution of SNP was detected using PCR-RFLP. The clinical data of children with KD were collected. Results The frequency of SNP loci (rs2333227) genotypes (GG, GA, AA) was signiifcantly different between children with KD and normal children (P=0.039), the allele frequency was also signiifcantly different between two groups (P=0.012), and the G allele was the risk factor. Compared with other genotypes, KD children with GG genotype had higher frequency in hand-foot edema (P=0.029). The SNP polymorphism was also associated with peritoneal effusion (P=0.028), however this SNP polymorphism was not associated with conjunctival hyperemia, oral mucosa lesions, and coronary artery lesion (P>0.05), also was not associated to imaging characteristics of hepatomegaly, splenomegaly, and lobular pneumonia (P>0.05). Conclusion The SNP loci (rs2333227) in MPO gene was associated with KD susceptibility, the G allele was a risk factor, and the SNP polymorphisms is associated with some clinical characteristic.

Female ; Humans ; Hypothyroidism ; drug therapy ; Infant, Newborn ; Thyroxine ; poisoning ; therapeutic use

ObjectiveTo investigate the association between nucleotide polymorphisms ofGRIN3A gene and clinical characteristic of Kawasaki disease (KD) in children in Han population in central Chinese.MethodsA case-control study was performed. A total of 191 children with KD were recruited and 217 healthy children were served as controls. The distribution of SNP was determined by PCR-RFLP. Arterial lesions were detected by echocardiographic.ResultsThe distribution of three genotypes (CC, CG, GG) in SNP (rs7849782) was statistically difference between KD and control groups (P=0.034), and C allele was associated with KD susceptibility (OR=1.46, 95%CI: 1.10-1.92,P=0.007). In children with KD, the polymorphism of SNP loci was signiifcantly associated with oral mucosa lesions and coronary artery lesion (P<0.05), but not associated with conjuncti-val hyperemia, hand-foot edema, rash, and lymphadenopathy (P>0.05). The polymorphism of SNP loci was also associated with the levels of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) (P<0.05).ConclusionThe ploymorphism of SNP loci ofGRIN3A gene (rs7849782) was associated with the susceptibility of KD. The C allele was the risk factors. The poly-morphism of SNP was associated with oral mucosa lesions and coronary artery lesion, and may affect the levels of ESR and CRP.

OBJECTIVETo explore the effect and feasibility of acupuncture in uterine involution after cesarean section.

METHODSSeventy cases of cesarean section in primipara were randomized into an observation group (33 cases) and a control group (37 cases). In the control group, the conventional treatment was adopted after cesarean section. In the observation group, on the basic treatment as the control group, acupuncture was applied at Sanyinjiao (SP 6), Hegu (LI 4), Qihai (CV 6) and Guanyuan (CV 4). In 2 h after operation, acupuncture started, once a day, continuously for five times. The daily height of uterine fundus, daily uterine fundus decreasing degree, postpartum blood loss, lochia duration and ultrasonic B test in 42 days of postpartum were compared between the two groups.

RESULTSThe therapeutic methods of the two groups all promoted uterine contraction. The postpartum height of uterine fundus in the observation group was lower than that in the control group (all P<0.05) and the uterine fundus decreasing degree was higher than that in the control group (all P<0.05). The blood loss in 2 h, 6 to 12 h and 24 to 48 h of postpartum was less than that in the control group (all P<0.05). The lochia duration in the observation group was shorter than that in the control group (P<0.05).

CONCLUSIONAcupuncture promotes uterine contraction, reduces postpartum blood loss and lochia duration and benefits uterine involution after cesarean section.

Acupuncture Therapy ; Adult ; Cesarean Section ; adverse effects ; Female ; Humans ; Postoperative Complications ; physiopathology ; prevention & control ; therapy ; Uterine Contraction ; Young Adult

Objective To explore the effect of pulse irrigation combined with autologous blood transfusion on inflammatory markers and thrombosis index, such as C-reactive protein (CPR), erythrocyte sedimentation rate (ESR), tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in patients undergoing total knee arthroplasty. Methods 96 patients due to knee osteoarthritis underwent unilateral total knee arthroplasty were randomly divided into experimental group (pulse irrigation combined with autologous blood transfusion after surgery ) and control group (alone autologous blood transfusion after surgery), PT, APTT, TNF-α, IL-6, D-Dimer of two groups at different time points were detected and compared. All patients underwent lower extremity vascular ultrasound examination after operation. Results PT, APTT values were no significant different between two groups (P > 0.05), TNF-α, IL-6 values of day1 and day7 after surgery in the experimental group were lower than the control group(P < 0.05), D-Dimer values of day4 after surgery were lower than the control group (P <0.05), the incidence of deep vein thrombosis (DVT) in the experimental group was lower than the control group (P < 0.05). Conclusion Pulse irrigation combined with postoperative autologous blood transfusion in total knee arthroplasty had no influence in blood coagulation , and can reduce inflammation and the incidence of DVT than alone autologous blood transfusion,thus is beneficial to the patient recover.

Objective To investigate the influence of high intensity focused ultrasound(HIFU) ablation therapy on pregnancy outcomes in the patients with adenomyosis(AM).Methods Twenty patients with AM and successful pregnancy after HIFU ablation in Chongqing Haifu Hospital from April 2011 to February 2016 were selected.Their pregnancy and delivery situation were retrospectively analyzed.Results After HIFU treatment,the symptoms of dymenorrhea and menorrhagia were significantly improved compared with before operation(P＜0.05).The average fertilization time after HIFU was(8.75 ± 6.23) months,among them 11 cases succeeded in delivery,5 cases had spontaneous abortion,1 case was ectopic pregnancy,1 case took artificial abortion and 2 cases were still in pregnant period all cases had no uterime rupture during pregnant or delivery period.Neonateswere healthy.Conclusion HIFU ablation is an effective mode for treating AM and can be used in the patients with AM and birth demand.

Objective To investigate ultrasound as a therapy for white lesions of the vulva.Methods Immunohistochemistry and hybridization in situ were used to study changes in VEGF protein and mRNA in the vulva skin of rabbits after ultrasound irradiation.Results After irradiation,VEGF protein and mRNA had increased markedly after 4 and 7 days,but their levels recovered by day 14.Conclusion Ultrasound irradiation causes local edema and hypoxia which enhance production of VEGF.VEGF promotes growth of local microvessels and increases the permeability of the endothelial cells of blood vessels.These changes improve nutrition of the mierovessels and nerve endings and ameliorate the microenvironment for tissue growth.One could speculate that ultrasound irradiation helps rehabilitation and regeneration of pathologic vulva skin.

Objective To analyze the antimicrobial susceptibility of Mycoplasma isolates for rational antimicrobial therapy. Methods BioM?rieux IST kit was used for identification and susceptibility testing of Mycoplasma strains.Results Mycoplasma was positive in 49.5% of the specimens tested.Of the Mycoplasma detected,Ureaplasma urealyticum(Uu)alone accounted for 74.7%,Mycoplasma huminis(Mh)alone accounted for 18.1%,and Uu+Mh was identified in 7.2% of the patients.The results of antimicrobial susceptibility testing showed that the Mycoplasma isolates were most susceptible to doxycycline (98.1%).Ciprofloxacin was the least active (17.3%).Conclusions Doxyeycline,josamycin,and clarithromycin can be used in the treatment of urinary tract infections caused by Mycoplasma.

Objective To study the clinical features,diagnosis and treatment of eosinophilic granuloma of bone(EGB).Methods Twelve cases(8 male and 4 female)of EGB and their medical record,imaging examinations,follow-up data were reviewed,and the lesion sites,symptom and clinical features were analyzed with reference to relative literature.Results Nine unifocal cases were found in the cervical spine(3 cases),the thoracic spine(1 case),the lumber spine(1 case),the femur(1 case),the metacarpal bones(1 case),and the ilium(2 cases).Three multifocal cases were found in the thoracic and lumber spine(1 case),in the femur,the multiple ribs,the skull,the scapula(1 case)and in the skull,the femur,the ilium(1 case).The most common presenting symptom was pain at the lesion site and restricted motion was obviously in the cervical lesion.The case of the thoracic lesions was found neurologic deficit.Osteolytic destruction was found in the radiologic examination in EGB and the periosteal reaction was found in the long bone lesions,and vertebra plana was considered as typical cha-racteristics in the spine lesion.The lesions not in the spine were diagnosed by biopsy,exclusive methods and close following-up were performed in the spine lesions.Two unifocal were healed spontaneously and three were performed with curettage with one bone grafting.Multifocal and the lesions in the spine underwent chemotherapy.All cases were followed up and no recurrence was found.Conclusions EGB is commonly solitary and not seldom in the spine.Topical pain may be chief complaint.Osteolytic image was found in the radiologic examination.Biopsy and exclusive methods combining closely follow-up were used for diagnosis.EGB is self-limited observation,so curettage or chemotherapy can be used in treatment,and prognosis is good.