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1.
Medicine (Baltimore) ; 102(40): e35436, 2023 Oct 06.
Article in English | MEDLINE | ID: mdl-37800821

ABSTRACT

RATIONALE: Primary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene. vEDS is a rare inherited disorder with an prevalence of one in 150,000. It can causes PSP and severe fragility of connective tissues with arterial but it remains poorly defined on clinical grounds and diagnose. Through this report, we hoped to help clinicians further understand the characteristics of vEDS. PATIENT CONCERNS: A 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain. Physical examination revealed remarkable hypermobility of the small joints and translucent skin with visible veins. Chest computed tomography (CT) showed pneumothorax and multiple pulmonary cavities. INTERVENTION AND OUTCOME: Genomic deoxyribonucleic acid (DNA) was extracted from patients. Heterozygosity was observed in all 3 novel variants. The main variant is COL3A1, c.3256-43T > G(NM_000090.3), which represents a missense mutation in collagen type III alpha 1 that can lead to vEDS. The other 2 mutations were FLNB c.4814G > A(NM_001457.3) and TSC2 c.3145G > A (NM_000548.3). These variants were validated by Sanger sequencing of their parents. COL3A1was not detected in either of the parent strains. FLNB and TSC2 were detected in his mother. DIAGNOSES: Vascular Ehlers-Danlos syndrome. LESSONS: Both COL3A1 and TSC2 gene mutations can cause PSP; however, to the best of our knowledge, there are no reports on these 2 gene mutations in 1 patient at the same time.


Subject(s)
Ehlers-Danlos Syndrome, Type IV , Ehlers-Danlos Syndrome , Pneumothorax , Skin Abnormalities , Humans , Male , Young Adult , Collagen Type III , Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/diagnosis , Ehlers-Danlos Syndrome/genetics , Hemoptysis/etiology , Mutation , Pneumothorax/diagnostic imaging , Pneumothorax/etiology , Skin Abnormalities/complications
2.
J Int Med Res ; 51(1): 3000605221149891, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36708207

ABSTRACT

Primary tracheobronchial schwannoma is extremely rare. A woman in her early 60 s was admitted to our department with a 2-month history of cough and expectoration. Chest computed tomography (CT) revealed a high-density nodule at the opening of the right main bronchus, accompanied by atelectasis in the middle and lower lobes. Flexible bronchoscopy revealed a tumor at the opening of the bronchus of the right middle lung lobe, which protruded into the main bronchus. A high-frequency electrosurgical snare, endobronchial cryosurgery, and argon plasma coagulation (APC) were used under rigid bronchoscopy. Histopathological examination diagnosed the tumor as schwannoma. The patient's symptoms resolved after the operation. Follow-up chest CT showed that the right main bronchus was unobstructed, and the bronchus of the lower lobe was open. Bronchoscopic interventional therapy is an alternative treatment for tracheobronchial schwannoma.


Subject(s)
Bronchoscopy , Neurilemmoma , Humans , Female , Bronchi/pathology , Tomography, X-Ray Computed , Neurilemmoma/diagnostic imaging , Neurilemmoma/surgery , Cough
3.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-707518

ABSTRACT

Objective To evaluate the efficacy of proximal humerus internal locking system (PHILOS) combined with allogeneic femoral head bone graft for the treatment of osteoporotic proximal humerus fractures in the elderly patients.Methods A total of 36 osteoporotic proximal humerus fractures were analyzed retrospectively which had been treated at Department of Orthopaedics,Traditional Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region from April 2015 to April 2017.They involved 14 men and 22 women,aged from 60 to 78 years(average,67 years).By the Neer classification,20 cases were two-part fractures,11 three-part fractures and 5 four-part fractures.They were all treated by PHILOS plating combined with allogeneic femoral head bone grafting.The outcomes were assessed using Neer evaluation system for shoulder function.Results All the 36 cases were followed up for 3 to 18 months (average,12 months).All the incisions healed postoperatively by the first intention,with no postoperative infection,nonunion,humeral head varus,screw cut-out,humeral head necrosis,or loosening of implants.Clinical healing of the fractures was achieved after 8 to 24 weeks (average,12 weeks).According to the Neer evaluation,shoulder function was excellent in 18,good in 15 and poor in 3 cases.Conclusion In the treatment of osteoporotic proximal humerus fractures in the elderly,combination of PHILOS plating and allogeneic femoral head bone grafting can effectively prevent such postoperative complications as humeral head varus,screw cut-out and loosening of implants.

4.
Clinical Medicine of China ; (12): 1084-1088, 2017.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-664311

ABSTRACT

Objective To investigate the correlation between red blood cell distribution width(RDW) and in-stent restenosis(ISR)in patients with coronary heart disease after PCI.Methods A total of nine hundred and seventy-eight patients with coronary heart disease treated in Beijing Anzhen Hospital,Capital Medical University with DES stent implantation from March 2015 to March 2016 were enrolled in the study.Among them,493 patients(50.41%)underwent coronary angiography in the hospital at 6-12 months after the operation.According to the results of the angiography,the patients were divided into two groups: the ISR group and the non-ISR group.The basic data of the patients,the laboratory indexes and the coronary interventional procedures record were collected to analyze the factors that could lead to in-stent restenosis.Results 51 cases(10.34%)in the ISR group and 442 cases(89.66%)in the non-ISR group.The baseline characteristics of the two groups were similar,and there was no significant difference in gender,age, body mass index,combined with hypertension,family history of coronary heart disease,long-term administration of statin and follow-up interval(P>0.05).The proportion of patients with diabetes was significantly higher than that of the non-ISR group(37.3% vs.22.6%,P=0.021);the smoking rate was significantly higher in the ISR group(52.9% vs.35.7%,P=0.016).In terms of laboratory examination,there were no significant differences between the two groups in blood lipid levels and WBC,RBC,Hb and PLT counts between the two groups(P>0.05).The levels of serum RDW(13.4(13.00,13.80)vs.12.7(12.40,13.10),P<0.01)and hs-CRP (3.15(2.32,4.63)vs.1.33(0.63,3.16),P<0.01)were significantly increased in the patients with ISR.The stent length was longer in the ISR group((21.87 ± 5.20)mm vs.(19.14 ± 4.87)mm,P<0.01),the stent diameter was smaller((2.87±0.38)mm vs.(3.09±0.36)mm,P<0.01),the number of cases with serial stents in ISR group was higher than that in non-ISR group(45.1 % Vs 30.8%,P=0.038).Multivariate logistic regression analysis showed that RDW(OR=2.396,95%CI 1.655-3.471;P<0.01),hs-CRP(OR=1.052, 95%CI:1.001-1.105;P=0.044),DM(OR=2.029,95%CI:1.004-4.100;P=0.049),smoking(OR=2.252,95%CI:1.060-4.783;P=0.035),stent length(OR=1.149,95%CI:1.072-1.230;P<0.01),stent diameter(OR=0.210,95%CI:0.079-0.558;P=0.002)and serial stents(OR=2.306,95%CI:1.162-4.575;P=0.017)were independent risk factors for in-stent restenosis.Conclusion Red blood cell distribution width is an independent predictor of in-stent restenosis after PCI in patients with coronary heart disease.Chronic inflammation and oxidative stress may be the most important pathogenesis of ISR.

5.
Journal of China Medical University ; (12): 212-214,227, 2010.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-598239

ABSTRACT

Objective To investigate the expression of heat shock protein-70(HSP70)in acute lung injury induced by paraquat poisoning.Methods A total of 72 Wistar rats were randomly divided into 3 groups(n=24 each group)and intraperitoneally injected with normal saline in group A,20 mg/kg paraquat in group B,and 40 mg/kg paraquat in group C.The lungs of rats were excised 1,3,6,12,and 24 hours after the injection,respectively.The expression of HSP70 in the lung tissue was detected by immunohistochemistry and Western blot.Results Paraquat induced acute lung injury in groups B and C.In group B,the expression of HSP70 increased at 2 hours,reached the peak at 6 hours,decreased at 12 hours,and returned to the baseline level at 24 hours.In group C,the expression of HSP70 increased at 1 hour,reached the peak at 3 hours,and returned to the baseline level at 24 hours.Conclusion Paraquat-induced acute lung injury may contribute to the enhanced expression of HSP70 in the bronchus,bronchiole,and alveolar epithelial cells,which indicates that HSP70 has a protective effect on lung injury.

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