OBJECTIVE: To explore the effection of the pulmonary function of patients of chronic rhinosinusitis (CRS) with asthma which treated with endoscopic sinus surgery (ESS) based comprehensive treatment. METHOD: There were 50 cases of chronic rhinosinusitis with asthma whom met the study criteria. 35 cases enrolled in the tri al group, which treated with endoscopic sinus surgery, and routine perioperative tratment. Another 15 cases as control group which underwent conservative treatment. Both groups underwent the rule treatment of asthma. The main monitoring indexes, which included visual analogue scale (VAS) score, endoscopic Lund-Kennedy score, control of asthma symptoms, the pulmonary function which involved forced expiratory volume in first second (FEV1), forced vital capacity (FVC), the ratio of forced expiratory volume in first second and forced vital capacity (FEV1/FVC) and peak expiratory flow (PEF), were measured in the patients of each groups before surgery, follow-up for 1 year and 3-year. RESULT: Our study found that the VAS score of CRS with asthma was significantly negatively correlated with FEV1 and PEF (P < 0.05), endoscopic Lund-Kennedy score was significantly negatively correlated with PEF (P < 0.05); After the trial group underwent ESS based comprehensive treatment, the improvement of VAS score and endoscopic Lund-Kennedy score of postoperative compared with preoperative and the same period in the control group were significantly (P < 0.05). The difference of the postoperative asthma control rate of trial group after 1 year and after 3 years, respectively, compared with the same period control group were statistically significant (P < 0.05). The preoperative FEV1, FVC, FEV1/FVC and PEF of trial group compared with preoperative were significantly (P < 0.05). Even the difference of them compared with the same period control group were significantly (P < 0.05), except the FVC in the follow-up 3 years (P = 0.088). CONCLUSION The CRS may aggravate asthma symptoms and affect negatively the pulmonary function, and poor asthma control or aggravate may exacerbate the CRS in the course of CRS with asthma patient. With ESS based on combined therapy, it can improve the condition of CRS significantly and improve the control of asthma symptoms and pulmonary function else.
Adolescent ; Adult ; Asthma ; complications ; Chronic Disease ; Endoscopy ; Female ; Humans ; Male ; Middle Aged ; Nose ; surgery ; Pulmonary Ventilation ; physiology ; Rhinitis ; complications ; surgery ; Sinusitis ; complications ; surgery ; Young Adult

Objective:To observe the image characteristics of optical coherence tomography (OCT) in patients with primary vitreoretinal lymphoma (PVRL).Methods:A retrospective clinical study. Thirty-two eyes of 19 patients diagnosed with PVRL by vitreous pathology in the Department of Ophthalmology, Beijing Tongren Hospital from September 2016 to October 2019 were included in this study. There were 7 males and 12 females. The median age was 56 years. The mean time from symptom onset to final diagnosis was 6.1±3.8 months. The first diagnosis was uveitis in 12 cases (63.1%, 12/19), retinal vein occlusion in 2 cases (10.5%, 2/19), central retinal artery occlusion in 1 case (5.3%, 1/19), and suspected PVRL of camouflage syndrome in 4 cases (21.1%, 4/19). Routine ophthalmic examination and frequency-domain OCT examination were performed in all the patients, and typical images were stored for analysis. According to the examination results, PVRL OCT signs were divided into vitreous cells, inner retinal infiltration, outer retinal infiltration, retinal pigment epithelial (RPE) infiltration, sub-RPE infiltration, and subretinal fluid.Results:Vitreous cells were found in all eyes (100.0%, 32/32). RPE infiltrated were observed in 19 eyes (59.4%, 19/32), RPE infiltration in 16 eyes (50.0%, 16/32), outer retinal infiltration in 8 eyes (25.0%, 8/32), inner retinal infiltration in 16 eyes (50.0%, 16/32), and subretinal fluid in 4 eyes (12.5%, 4/32).Conclusions:PVRL OCT signs can involve vitreous and retinal anatomical levels, including vitreous cells, inner retinal infiltration, outer retinal infiltration, RPE infiltration, sub-RPE infiltration and subretinal fluid. The same patient can show multiple signs at the same time.

Objective:To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing.Methods:The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and pedigree analysis. The clinical examinations included imaging examination, audiometry (pure tone audiometry, acoustic immittance, brainstem auditory evoked potential, and otoacoustic emission), vestibular function test, and ophthalmic examination (visual acuity test, visual field test, fundus examination, visual evoked potential, and electroretinogram). Target exome sequencing of 129 known deafness genes and bioinformatics analysis were used to screen suspected pathogenic variants. Sanger sequencing and minigene assay were used to verify and functionally investigate the mutation detected, respectively. According to the standards and guidelines for interpreting genetic variants proposed by the American College of Medical Genetics and Genomics, the variants c.6049G>A and c.8699A>G were classified as pathogenic/likely pathogenic, and the variant c.9856C>G was classified as variants of uncertain significance.Results:The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect, and normal vestibular function. Both of them had three CDH23 mutations, including CDH23 (NM_022124.5) c.6049G>A (p.Gly2017Ser),c.9856C>G (p.His3286Asp), and c.8699A>G (p. Asp2900Gly), The first two were inherited from the father, and the last one was from the mother. The missense variants c.9856C>G and c.8699A>G were not included in the gnomad database. The missense mutation c.6049G>A was located in the last position of exon 46 and was predicted to affect splicing by bioinformatics software. The minigene experiment showed that the mutation cause exon skipping of exon 46, resulting in an abnormal protein. Conclusions:Compound heterozygous variations of the CDH23 are the leading cause of USH1D in the family. This study confirms that the compound heterozygosity of splicing and missense variants of the CDH23 gene could lead to USH1D.