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Objective:To study the clinical characteristics of congenital tuberculosis (CTB).Methods:From June 2016 to February 2021, the clinical data of infants with CTB admitted to the neonatal department of our hospital were retrospectively analyzed, including their clinical characteristics, diagnosis, treatment and prognosis.Results:A total of 7 infants with CTB were enrolled into the study. 4 mothers had in vitro fertilization embryo transfer (IVF-ET) due to tubal obstruction and 2 mothers who were diagnosed of tubal tuberculosis. The 7 infants included 1 male and 6 female, 6 preterm and 1 full-term. The median age of onset was 18 d (7~30 d).All of the 7 infants had fever, 6 had shortness of breath and poor response, 5 had apnea, 3 were coughing, 1 showed pale skin colour, 1 had bilateral rales in the lung, 6 had hepatomegaly, 3 splenomegaly and 1 lymphadenopathy. Chest X-ray showed patchy exudation in 3 infants, miliary pattern of opacification in 2 infants, patchy opacification in 1 infant, bilateral increased lung markings in 1 infant. The positive rate of acid-fast bacilli (AFB) was 50% in all sputum samples. Specimens from glottic and subglottic area showed higher positive rate than oropharyngeal specimen. PCR MTB-DNA tests of sputum samples were positive in all 7 cases. 1 infant received invasive respiratory support for 1 d and died after discharge. 2 infants improved significantly after initial treatment, received 1~2 months of anti-TB therapy outside the hospital and died of severe respiratory failure. Of the 4 infants survived, 1 was cured and 3 significantly improved.Conclusions:Mothers with tubal tuberculosis receiving IVF-ET may cause high risk of CTB. Sputum AFB test and sputum PCR MTB-DNA test are preferred diagnostic tests. Genetic test of drug-resistant TB may guide clinical drug use. Glottic or deeper throat specimens can increase the positive rate.
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Objective:To study the characteristics of the genotype and phenotypic in a family with X-linked retinoschisis (XLRS) due to RS1 mutation. Methods:A retrospective clinical study. An XLRS family of 4 generations of 26 people were included in the study. Among them, 8 participants were males and 7 participants were females. Routine ophthalmologic examination was performed on 3 patients in the family including the proband and 12 patients with normal phenotype. Optical coherence tomography was performed in 2 of the 3 patients. Peripheral venous blood was extracted from all participants, whole-genome DNA was extracted, and potential pathogenic genes were screened by Panel sequencing. Conservative analysis, pathogenicity analysis and protein structure prediction were carried out by software tools. The pathogenicity of gene mutations was analyzed according to the American Society of Medical Genetics and Genomics (ACMG) guidelines.Results:The proband was 3 years old. Optical coherence tomography (OCT) examination showed that the retinal core layer in the macular area of both eyes had a cystic change, which was segmented by vertical or oblique bridging tissue. The proband's uncle was 32 years old. OCT examination showed atrophy in the macular area of the left eye. The macular area of the right eye was cystoid, segmented by vertical or oblique bridging tissue. No abnormality was found in the fundus examination of the proband's parents and 10 members of his family. Panel sequencing showed that c.361C>T/ p.Q121X hemizygous mutation was found in the fifth exon of RS1 gene in the proband (Ⅳ3) and 2 patients (Ⅱ1, Ⅲ8). The mother was a heterozygous mutation carrier of the gene, while the father had no mutation. The mutant gene causes premature termination of RS1, a truncated protein encoding 224 amino acids to 120 amino acids. Of the 10 patients with normal fundus examination, 6 participants were normal. The mutation was carried by four people, which were women. Homology analysis of the protein sequence showed that the mutant site was highly conserved in 12 mammals. Three-dimensional structural analysis of RS1 protein showed that the c-terminal amino acid sequence of the mutant protein was more than 50% missing. Analysis of ACMG guidelines indicated that the mutation was pathogenic. Conclusion:The RS1 mutation site c.361C>T/p.Q121X is a new mutation site of XLRS.
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Objective To investigate the clinical effects of high-density micropulse photocoagulation (HD-SDM) combined with intravitreal injection of ranibizumab for diabetic macular edema (DME).Methods Thirty-one patients (31 eyes) with DME were randomly divided into two groups.Group A (15 eyes) received HD-SDM combined with intravitreal injection of ranibizumab.Group B (16 eyes) only received intravitreal injection of ranibizumab.The best corrected visual acuity (BCVA) and central macular thickness (CMT) of the two groups before and after treatment were analyzed,and the annual injection times of the two groups were compared.Results The average annual injection times was 3.67 ± 1.11 in group A,and 9.12 ±2.63 in group B.The difference was significant between the two groups (t =2.05,P ＜ 0.05).There were significant differences in CMT before and after treatment in both groups (all P ＜ 0.05).There was no significant difference in CMT between the two groups(t =1.19,P ＞ 0.05).There were significant differences in BCVA before and after treatment in both groups (all P ＜ 0.05),but there was no significant difference before and after treatment between the two groups(all P ＞ 0.05).Conclusion Both HD-SDM combined with intravitreal injection of ranibizumab and single intravitreal injection of ranlbizumab are effective for DME,but the combining treatment can remarkably decrease the annual injection times and had a good compliance of patients,is a good choice for DME patients.
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Objective To evaluate the technical method,clinical effect,safety and complication of the endovascular interventional therapy of intracranial A1 segment aneurysms of anterior cerebral artery(ACA).Methods The data of 14 cases with ruptured A1 segment aneurysms received interventional therapy were analyzed retrospectively.All patients were admitted with subarachnoid hem-orrhage (SAH)and classified by Hunt-Hess scale.There were 3 cases of Grade Ⅰ,5 cases of Grade Ⅱ,and 6 cases of Grade Ⅲ. One of fourteen patients was treated by stent implantation alone and 10 patients were treated by coiling alone.The other 3 patients were treated by stent-assisted coiling.Results All the cases were embolized successfully and cured.Angiography immediately after procedure showed Raymond Ⅰ in 1 1 patients,RaymondⅡ in 2 patients and Raymond Ⅲ in 1 patient.In one patient a coil loop was partly left in the parent artery.All of them showed excellent outcome without any serious complication except that one patient suf-fered transient left hemiparesis.Conclusion Endovascular interventional therapy is a safe,effective method in the treatment of the intracranial A1 segment ACA aneurysms.
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Objective To evaluate the effectives of high-frequency oscillatory ventilation (HFOV)in the treatment of severe NRDS.Methods The severe NRDS who failed to response to conventional mechanical ventilation (CMV) were changed to HFOV treatment.Ventilator parameters and blood gas analysis were compared before and after treatment.Results Among thirty patients,19 cases were significantly improved and 11 cases were failed,the success rate was 63％.Nineteen patients with HFOV,the main ventilator parameters and blood gas results such as FiO2 ( 0 h:0.87 ± 0.09 vs 3 h:0.67 ± 0.10,6 h:0.54 ±0.08,12h:0.44 ±0.08),MAP[0 h:(14.47 ±1.17) mbar vs 3 h:(13.79 ± 1.03) mbar,6 h:(13.26 ±1.05) mbar,12 h:( 12.37 ±0.83) mbar],f[0 h:(7.26 ±0.56) Hz vs 3 h:(7.89 ±0.57) Hz,6 h:(8.42±0.51 ) Hz,12 h:(9.26 ±0.45) Hz] and PaCO2 [0 h:(9.69 ±0.86) kPa vs 3 h:(6.00 ±0.55) kPa,6 h:(5.62 ± 1.03)kPa,12 h:(5.47 ±0.55)kPa] were decreased while pH(0 h:7.21 ±0.06 vs 3 h:7.35 ±0.07,6 h:7.39 ±0.07,12 h:7.40 ±0.06) and PaO2[0 h:(5.46 ±0.82)kPa vs 3 h:(7.92 ± 1.13)kPa,6 h:(9.25 ± 0.99)kPa,12 h:(9.20 ± 0.96)kPa] were significantly increased compared with before treatment ( P ＜ 0.05).Conclusions The patients of severe NRDS who failed to response to CMV were treated with HFOV,some patients received a significant effect with HFOV treatment.
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Objective To discuss the safety,efficacy and time window of thombolysis using recombinant staphylokinase(r-Sak).Methods The model of acute cerebral infarction was established with interventional embolization technique in 24 adult beagle dogs,which were randomly divided into 3 groups including control group,6 h intra-arterial group and 3 h intravenous group.Angiography was performed before thrombolysis.We administered r-Sak for thrombolysis(10 ml of saline in control group,0.2 mg/kg of r-Sak in the intra-arterial group through left internal carotid artery 6 h after embolization,and 0.2 mg/kg of r-Sak in the intravenous group through femoral vein 3 h after embolization).Follow-up angiography was repeated half,1 and 2 hours after thrombolysis.The plasma levels of PT,APTT and D-dimer were assayed at the time points of 30 min before thrombolysis,30 min,60 min and 120 min after thrombolysis.These canines were sacrificed,and their brains were taken out for pathological study at 24 hours after embolization.Results The recanaled vessels at 2 hours after thrombolysis was 11(11/13) in the intra-arterial group,8(8/11) in r-Sak intravenous group and 1(1/10) in control group,and the vessels of complete recanalization was 6(6/13),2(2/11) and 0(0/10),respectively.There were statistically significant differences among the three groups (P=0.001 and P=0.035 respectively),but there were no statistically significant differences between the intra-arterial and the intravenous groups (P=0.630 and P=0.211).The PT and APTT are significantly prolonged in the thrombolytic groups.The levels of D-dimer was not changed after thrombolysis (P＞0.05). All dogs were alive 24 h ours after embolization.The clinical presentations in the thrombolytic groups were better.Pathologically,there were no cerebral hemorrhage in all groups.Conclusion r-Sak has strong effect of thrombolysis,and its complication of intracerebral hemorrhage is rare.The intra-arterial thrombolysis 6 h after embolization using r-Sak is safe and effective.
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[Objective]To compare the value of the MR imaging and arthroscopy for detecting articular cartilage erosion,and to evaluate the clinical effect of MR imaging on the correct diagnosis in the early stage of articular cartilage lesion.[Method]Twenty-six patients(27 knees)with persistent knee pain who were scheduled for arthroscopy underwent MR scanning,including 3D FS-FSPGR,FSE PDWI and FSE T1WI sequences.The results of each sequence were then compared with the arthroscopic findings.[Result]Using arthroscopic results as the standard of reference,the 3D FS-FSPGR images had the higher sensitivity(96.5%)and accuracy(95.0%)than the standard MR imaging,the 3D FS-FSPGR sequence was well consistent with the result of arthroscopic,Kappa value was higher(0.776)than the other sequences(P
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Objective To reseach the way of rising resectable rate,reducing operative mortality,enhancing long-term effect and higher life quality in postoperation for cancers of esophagus and gastric cardia.Method Operation outcome of 2837 cases for cancers of esophagus and gastric cardia and followed-up were analysed.Results Overall resectability was 98.7%,and postoperative mortality was 0 92% in the group.Survival rates of 3 and 5 years were 48.9% and 33.7%,respectively.Factors affecting long-term survival were those of depth of tumor invasion and lymph nodes metastasis and oncologic staging.It was higher for cervical lymph nodes metastasis within 3 years after operation.Conclusions Early discovery and timely treatment,an appropriate enlarging resectable field and comprehensive therapies are the key to improve the long-term survival.