A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss

Abstract Objectives: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. Methods: The basic clinical data of Ol proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation Sanger sequencing. Literature of stapedial surgery in patients with osteogenesis imperfecta was collected. Results: The heterozygous mutation of the 26 exon c.1922_1923 ins C in the Ol progenitor COL1A1 gene led to the amino acid frameshift mutation of p.Pro 601FS, which was not detected in the phenotypic parents. The homozygous of exon 28 c.1782>G in COL1A2 was detected in the proband and her parents, resulting in changes in the protein p.Pro 549Ala. Conclusion: The clinical symptoms of the Ol proband is caused by heterozygous mutation of the 26 exon c.1922_1923 ins C in COL1A1 gene. Stapedial surgery can provide short-term and long-term hearing benefits for Ol patients with hearing loss. Level of evidence: Level 4.

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss.

OBJECTIVES: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. METHODS: The basic clinical data of OI proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation Sanger sequencing. Literature of stapedial surgery in patients with osteogenesis imperfecta was collected. RESULTS: The heterozygous mutation of the 26 exon c.1922_1923 ins C in the OI progenitor COL1A1 gene led to the amino acid frameshift mutation of p.Pro 601FS, which was not detected in the phenotypic parents. The homozygous of exon 28 c.1782>G in COL1A2 was detected in the proband and her parents, resulting in changes in the protein p.Pro 549Ala. CONCLUSION: The clinical symptoms of the OI proband is caused by heterozygous mutation of the 26 exon c.1922_1923 ins C in COL1A1 gene. Stapedial surgery can provide short-term and long-term hearing benefits for OI patients with hearing loss. LEVEL OF EVIDENCE: Level 4.

Comparison Between Multiple and Solitary Fungus Balls: A Retrospective Analysis.

OBJECTIVES: The most common type of noninvasive fungal rhinosinusitis is fungus ball (FB), which usually involves a solitary paranasal sinus. Multiple fungus balls (MFBs) are rarely reported in literature. The purpose of this study was to analyze and compare the clinical features of MFBs and solitary fungus ball (SFB). METHODS: We retrospectively investigated consecutive cases of FB between 2001 and 2018 and compared the clinical records of SFB with MFBs with respect to demographics, clinical features, location, radiological findings, and operative outcome. RESULTS: A total of 440 SFB and 43 MFBs cases were included in the study. The mean age was 55.3 ± 13.3 and 60.6 ± 10.9 years, respectively (P = .011). The incidence of MFBs obviously increased from 2001 to 2018. The clinical symptoms and laboratory examination were similar. On computed tomography images, complete opacification, septal deviation, Haller cells, and obstruction of ostiomeatal complex were more common (P < .05). The incidence of SFB on the left and right sides was similar, while MFBs were seen to involve both sides in 74.4%. CONCLUSIONS: Compared with SFB, MFBs showed some special characteristics. The MFBs affected older patients showed wide range of lesions and complex anatomy. Surgical technique is very important. Much more attention should be paid to this not so uncommon disease during the perioperative period.

Correction to: Efficacy and safety of delivery of topical medication on to the frontal sinus at different head positions after frontal sinusotomy.

In the original publication of the article, under the experimental protocol of the section "Clinical head position study in postoperative CRS patients", the following sentence "There were 20 CRS patients, 12 male and 8 female across an age range of 19-64 years…" was published incorrectly.

Efficacy and safety of delivery of topical medication on to the frontal sinus at different head positions after frontal sinusotomy.

PURPOSE: Effective topical medications delivery to the frontal sinus is crucial to recovery from frontal sinusotomy. However, finding a way to deliver local medications to the frontal sinus is still a major challenge. The objective of this study was to evaluate the influence of various head positions on postoperative frontal sinus drug deposition. The safety and efficacy were also evaluated in postoperative chronic rhinosinusitis (CRS) patients. METHODS: Full house surgery was performed on six fresh frozen cadaver heads. The fluorescein solution was dropped into the nasal sinuses in three different head positions, and the fluorescein deposition was evaluated. A prospective cohort study was performed to validate the results in 20 postoperative CRS patients. The cortisol level, symptom VAS and the frontal recess endoscopy scores were evaluated pre- and postoperatively. RESULTS: The frontal recess delivery of fluorescein was better in the Mygind and vertex-to-floor positions than in the head back position. The cortisol level of patients dropped markedly after taking oral methylprednisolone, but returned to baseline when replaced with budesonide drops. The pre- and postoperative symptom VAS scores did not differ significantly between the two groups. Endoscopic scores of the vertex-to-floor group were significantly better than those of the Mygind group. CONCLUSION: Both the Mygind and the vertex-to-floor head positions were optimal for delivery of topical medications to the frontal recess. When applying the steroid drops, both positions were found to be safe and associated with effective relief of symptoms. The vertex-to-floor position can better improve the endoscopic scores of frontal recess and frontal sinus.

[Influence of different levels of skin pricking test on the short-term efficacy of subcutaneous immunotherapy in allergic rhinitis].

Objective:To explore the effect of different levels of skin pricking test on short-term efficacy of subcutaneous immunotherapy with allergic rhinitis.Method:Thirty-one AR patients were included in our study.All the patients had received subcutaneous immunotherapy for 1 year.According to the levels of SPT the patients were divided into 3 groups(grade 2,10 persons;grade 3,10 persons and grade 4,11 persons).Of all the patients,the nasal symptoms visual analogue scale(VAS)score,medication score and rhinoconjunctivitis quality of life questionnaire(RQLQ)were investigated both before and after receiving 1 year subcutaneous immunotherapy.Result:The total effective rate of VAS score,RQLQ score and medication score was 61.30%,58.06% and 64.52% respectively,but there was no statistical difference among the 3 groups after 1 year subcutaneous immunotherapy(P=0.573,0.136,0.699,P>0.05).Conclusion:This study confirms the short efficacy of subcutaneous immunotherapy in AR patients with different levels of SPT.But the level of SPT was not an objective index for shortterm efficacy of subcutaneous immunotherapy of AR.

Nasal septum suture combined with inferior turbinate coblation after septoplasty: Does it improve quality of life and reduce complications?

OBJECTIVE: Nasal packing is routinely applied after septoplasty. Patients, however, report feeling very uncomfortable while the packing is in place. The aim of this study was to compare the effects of nasal septum suture combined with inferior turbinate coblation to the effects of nasal packing after septoplasty. METHODS: In this study, 135 patients undergoing septoplasty were divided into 3 groups: group 1 patients had microdebrider with packing, group 2 received coblation with packing and group 3 had coblation with suture. Early postoperative quality of life and complications were compared between the 3 groups. RESULTS: The patients in group 1 experienced the most postoperative nasal pain, headache, dysphagia, sleep disturbance and bleeding on the night of surgery; while the patients in group 3 experienced the fewest symptoms. No difference in epiphora was observed between the 3 groups. More pain and bleeding were experienced when comparing the pack removal (Group 1 and 2) with the clearance of the nasal cavity (Group 3). We noted one case of postoperative bleeding in group 1, one septal hematoma in group 1 and a second septal hematoma in group 2. No such postoperative complications were found in group 3. CONCLUSION: Nasal septum suture combined with inferior turbinate coblation was not only associated with less pain, increased patient satisfaction and an improved quality of life; but also reduced postoperative complications. Our results confirm that it is a more comfortable, reliable alternative to the more common nasal packing.

Anatomy, classification of intersinus septal cell and its clinical significance in frontal sinus endoscopic surgery in Chinese subjects.

BACKGROUND: Intersinus septal cell (ISSC) is not a very uncommon frontal recess cell. But it is poorly described in literature. The clinical significance of this anatomic variant still remains unclear. The purpose of this study was to clarify the anatomy, classification of ISSC and its clinical significance in Chinese subjects. METHODS: We prospectively identified ISSC in 200 consecutive subjects who had undergone computed tomography (CT) scans: 120 without frontal sinusitis (group 1) and 80 with frontal sinusitis (group 2). The ISSC was classified into two types: Type I ISSC communicated with frontal sinuses, type II ISSC communicated with frontal recess. The patients of frontal sinusitis had undergone functional endoscopic sinus surgery with the assistance of the classification of ISSC. Statistical analysis was performed to correlate the ISSC and its type to the presence of frontal sinusitis. RESULTS: The ISSC was obvious when reviewing the coronal and axial CT scans. Of the 200 CT scans reviewed, ISSC were present in 90 (45%). Of the 120 scans in group 1, ISSC were present in 49 (41%), among which type I ISSC was in 22 (18%) and type II was in 27 (23%). Of the 80 scans in group 2, ISSC was present in 41 (51%), among which type I ISSC was in 16 (20%) and type II was in 25 (31%). There were no statistically significant differences about the frequency distribution of total ISSC, type I and II ISSC between group 1 and group 2. CONCLUSIONS: The prevalence of ISSC was very high in Chinese patients. The classification of ISSC was helpful for surgeon to operate according to whether it communicated with frontal sinus or frontal recess. The type II ISSC could be relatively easily removed from frontal recess.

[Effect of cycloxygenase 2 inhibitor on levels of prostaglandin E2 in plasma and in local infiltrated fluid after functional endoscopic sinus surgery].

OBJECTIVE: To examine the time course and clinical relevance of changes in prostaglandin E2 (PGE2) to pain and outcome in surgical drainage, and circulating blood after functional endoscopic sinus surgery (FESS). METHODS: Thirty-seven patients scheduled to undergo FESS were randomized to receive celecoxib 400 mg(n=16) one hour before anesthesia induction and celecoxib 200 mg, q12 h for five consecutive days after surgery or nothing for patients in control group(n=21). Surgical site drainage and venous blood were collected up to 48 hours after surgery to test PGE2 level. Plasma levels of thromboxane A2 (TXA2) and prostacyclin (PGI2) were also tested for the same time course. RESULTS: For control patients, PGE2 level was elevated in both surgical site and circulating blood, which reached a peak concentration 6 h(177.5 ± 142.2 ng/L) and 48 h (64.5 ± 21.4 ng/L)respectively after FESS. For patients in celecoxib group, a significant reduction of surgical drainage PGE2(peak level 106.2 ± 33.4 ng/L at 6 h) and plasma PGE2 (peak level 44.7 ± 30.2 ng/L at 48 h) was observed(P<0.05). Pain scores 6 h and 48 h after surgery were positively correlated with surgical drainage PGE2 level, correlation coefficient being 0.333 (P=0.044) and 0.353(P=0.032) respectively. Celecoxib did not affect the ratio of plasma TXA2 to PGI2. CONCLUSION: Upregulation of PGE2 in surgical site after surgery was crucial in inflammatory response and postoperative pain. Cycloxygenase-2 inhibitor could significantly reduce surgical drainage and plasma PGE2 concentration.

Association between HLA class II locus and the susceptibility to Artemisia pollen-induced allergic rhinitis in Chinese population.

OBJECTIVE: The aim of the study was to determine whether susceptibility or resistance to Artemisia pollen-induced allergic rhinitis was associated with HLA class II DQA1, DQB1 loci. Study design and setting Forty-one subjects with allergic rhinitis and 41 healthy controls from Beijing were genotyped at HLA class II DQA1, DQB1 alleles by polymerase chain reaction amplification with sequence-specific primers-based technique. RESULTS: The allele frequencies of HLA-DQA1*0201, DQB1*0602 were lower in patients with allergic rhinitis compared with the controls (24.39% versus 46.34%, P = 0.038; 4.88% versus 26.83%, P = 0.007), and the frequency of DQA1*0302 was higher among patients than the controls (58.54% versus 14.63%, P = 0.00004, Pc = 0.0004). CONCLUSION AND SIGNIFICANCE: HLA-DQA1 and -DQB1 genes may be involved in the development of Artemisia pollen-induced allergic rhinitis. HLA-DQA1*0201, DQB1*0602 alleles may be a protective factor and DQA1*0302 may be a susceptible factor for Artemisia pollen-induced allergic rhinitis.

A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitis.

Allergic rhinitis is a major public health problem and has seen its prevalence increase during the past few decades. Interleukin 13 (IL-13) has been implicated in the pathogenesis and in the regulation of immunoglobulin E (IgE) production. Single nucleotide polymorphisms (SNPs) have been found in both the coding sequence and the promoter region of IL-13, and such SNPs have been associated with allergic asthma. We have investigated whether IL-13 SNPs are associated with allergic rhinitis. Among 188 Chinese adult patients with allergic rhinitis and 87 normal controls, no significant difference was found in either allele or haplotype frequency of the SNPs between the two groups. Within patients, there was a significant association of the IL-13 Arg130Gln SNP, but not of the IL-13 promoter -1112(C/T) SNP, with serum total IgE levels. Patients with a Gln/Gln genotype showed much higher serum total IgE than those with an Arg/Arg genotype. When tested for serum-specific IgE, patients allergic to Derp 1, but not those allergic to Artemisia pollen, showed a significant association with the IL-13 promoter SNP. Thus, our results suggest a possible involvement of IL-13 SNPs in the regulation of IgE production in response to allergens in this Chinese population.