Rapid, portable and visualizing nitrite detection enabled by a rationally designed meso-aminoindole substituted pyronine-based fluorescent probe.

Nitrite (NO2-) widely exists in our daily diet, and its excessive consumption can lead to detrimental effects on the human central nervous system and an elevated risk of cancer. The fluorescence probe method for the determination of nitrite has developed rapidly due to its simplicity, rapidity and sensitivity. Despite establishing various nitrite sensing platforms to ensure the safety of foods and drinking water, the simultaneous achievement of rapid, specific, affordable, visualizing, and on-site nitrite detection remains challenging. Here, we designed a novel fluorescent probe by using Rhodamine 800 as the fluorescent skeleton and 5-aminoindole as the specific reaction group to solve this problem. The probe shows a maximal fluorescence emission at 602 nm, thereby avoiding background emission interference when applied to food samples. Moreover, this unique probe exhibited excellent sensing capabilities for detecting nitrite. These included: a rapid response time within 3 min, a noticeable color change that the naked eye can observe, a low detection limit of 13.8 nM, and a remarkable selectivity and specificity to nitrite. Besides that, the probe can detect nitrite quantitatively in barreled drinking water, ham sausage, and pickles samples, with good recoveries ranging from 89.0 % to 105.8 %. More importantly, based on the probe fixation and signal processing technology, a portable and smart sensing platform was fabricated and made convenient and rapid analysis the content of NO2- in real samples possible. The results obtained in this work provide a new strategy for the design of high-performance nitrite probes and feasible technology for portable, rapid and visual detection of nitrite, and this probe holds the potential as a practical tool for alleviating concern regarding nitrite levels.

Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.

Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on a family in which germline mosaicism for TCS was likely present. The proband was diagnosed with TCS based on the typical clinical features and a pathogenic variant TCOF1 (c.4369_4373delAAGAA, p.K1457Efs*12). The mutation was not detected in his parents' peripheral blood DNA samples, suggesting a de novo mutation had occurred in the proband. However, a year later, the proband's mother became pregnant, and the amniotic fluid puncture revealed that the fetus carried the same mutation as the proband. Prenatal ultrasound also indicated a maxillofacial dysplasia with unilateral microtia. The mother then disclosed a previous birth history in which a baby had died of respiratory distress shortly after birth, displaying a TCS-like phenotype. Around the same time, the proband's father was diagnosed with mild bilateral conductive hearing loss. Based on array data, we concluded that the father may have had germline mosaicism for TCOF1 mutation. Our findings highlight the importance of considering germline mosaicism in sporadic de novo TCOF1 mutations when providing genetic consulting, and prenatal diagnosis is important when the proband's parents become pregnant again.

Hearing outcomes following cochlear implantation with anatomic or default frequency mapping in postlingual deafness adults.

PURPOSE: The aim of this study was to compare the outcomes of different mapping procedures based on anatomic or default frequency distribution in postlingual deafness adults who underwent cochlear implantation (CI). METHODS: Forty-eight adults with postlingual deafness who underwent CI (MED-EL) from January 2021 to May 2022 in our hospital were prospectively recruited. The participants were randomly assigned to two groups (the anatomic group and the default group). Postoperative computerized tomography (CT) scans were evaluated with Otoplan® to determine the angular insertion depth (AID) and the specific locations of the intracochlear electrodes. Anatomic maps were imported into MAESTRO 9.0 software (MED-EL) for anatomy-based fitting for anatomic group, while default mapping program was set up for the default group. Hearing thresholds, Speech Recognition Scores (SRS), and subjects' auditory and musical abilities were evaluated 1 year after using the CI. Differences were determined in two groups using Stata statistical software, with significance defined as p < 0.05. RESULTS: SRS under noisy conditions was significantly greater for anatomic group than the default group (p = 0.02). Under quiet conditions, however, mean hearing thresholds (0.5, 1, 2, and 4 kHz) and SRS did not differ significantly between the two groups (p = 0.07). Modified questionnaires showed that auditory (p = 0.02) and musical (p = 0.01) quality were significantly better following the anatomic mapping than the default procedure. CONCLUSION: CI program based on the anatomic distribution may bring better SRS under noise conditions as well as better auditory and musical qualities than based on the default frequency distribution.

Co-Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management.

OBJECTIVES/HYPOTHESIS: The co-occurrence of sensorineural hearing loss (SNHL) and congenital heart disease (CHD) is a rare condition with complex etiologies. The purpose of this study is to assess the etiologies, clinical features, and outcomes of cochlear implant (CI) in this patient population. STUDY DESIGN: Case series and literature review. METHODS: Clinical data of children who were diagnosed with SNHL and CHD and received CIs at a tertiary hospital from 2016 to 2021 were retrospectively analyzed. A literature review was performed to identify patients with SNHL and CHD. FINDINGS: Of the 382 children who underwent cochlear implantation at our center, eight (2.1%) were diagnosed with SNHL and CHD. A literature review identified 1525 patients from 254 studies; the database therefore consisted of 1533 patients. The most common genetic etiologies of co-occurring SNHL and CHD were CHARGE syndrome (36.3%), Turner syndrome (8.4%), 22q11.2 deletion (3.0%), Noonan syndrome (2.9%), and Down syndrome (2.5%), whereas the most common non-genetic etiologies were congenital rubella syndrome (22.9%) and SNHL after early cardiac surgery (5.5%). Most of the patients presented with congenital, bilateral, severe-profound SNHL requiring early rehabilitation. Of the 126 children who received CIs at a median age of 2.5 years, half showed delayed speech development at last follow-up. CONCLUSIONS: Co-occurring SNHL and CHD is a rare condition with complex etiologies. Timely hearing intervention with long-term follow-up and proper timing of heart surgery is essential for these children. LEVEL OF EVIDENCE: 4, case series Laryngoscope, 134:400-409, 2024.

[Selection and application in the approach of Bonebridge implantation for bilateral congenital malformation of external and middle ear: selection and application].

Objective:According to whether auricle reconstruction has been performed before the implantation of Bonebridge, the different surgical plan of combination of ear reconstruction and hearing rehabilitation with Bonebridge were respectively applied for the individuals with congenital outer and middle ear malformation. The study aim to explore the feasibility of personalized comprehensive treatment of congenital outer and middle ear malformation. Methods:We developed individualized surgical plans of Bonebridge implantation and auricular reconstruction for 35 patients with bilateral external and middle ear malformation. Six patients underwent Bonebridge implantation on one side, and the post-auricular skin expander implantation on the other sidesimultaneously; seven patients underwent Bonebridge implantation at the same time as the second stage of auricular reconstruction; twenty-two patients had their Bonebridge implantations performed after the reconstruction of the auricles. Results:No intraoperative complications occured in 35 patients. No facial paralysis, vertigo, tinnitus and cerebrospinal fluid leakage was reported. One patient had skin infection after Bonebridge implantation. The Bonebridge was removed and 7 months later and the Bonebridge implantation was re-performed on the same side. No complication occurred after 16 months of follow-up. Conclusion:According to the individual condition of the patients, different surgical plans of Bonebridge implantation and auricular reconstruction can be selected personally, which is beneficial to obtain the ideal aesthetic and hearing outcome.

Clinical characteristics and survival outcomes of malignant struma ovarii confined to the ovary.

BACKGROUND: Malignant struma ovarii (MSO) is a unique type of ovarian malignancy that data on the survival outcome is limited and management strategy remains controversial due to its extreme rarity. METHODS: To investigate the clinical characteristics and treatment options in patients with MSO confined to the ovary, while also evaluating the recurrent-free survival (RFS) and overall survival (OS) rate in this population, a retrospective study was conducted. One hundred twenty-five cases of MSO confined to the ovary were enrolled and their clinical characteristics, treatment strategies, and results of follow-up were analyzed. OS and RFS were assessed by Kaplan-Meier analyses and Cox regression models. RESULTS: The most common pathological subtype in this cohort was papillary carcinoma (44.8%). Other reported subtypes, in order of prevalence, were follicular variant of papillary carcinoma, follicular carcinoma, and mixed follicular-papillary carcinoma. Surgical treatment options varied in this cohort that 8.0% of the patients received ovarian cystectomy, 33.6% underwent unilateral salpingo-oophorectomy (USO), 5.6% received bilateral salpingo-oophorectomy (BSO), 21.6% received total abdominal hysterectomy with BSO (TAH/BSO), and 17.6% were treated with debulking surgery; 20.0% of them received radioiodine therapy (RAI). Twenty-seven patients experienced recurrence with a median RFS of 14.0 years (95% confidence interval [CI], 9.5-18.5). The 5-year and 10-year recurrent rate were 27.1, 35.2%, respectively. Eight patients died during follow-up, with five attributed to MSO; the 5-year, 10-year, and 20-year OS rate was 95.3, 88.7 and 88.7%, respectively. However, the univariate and multivariate Cox regression showed no potential risk factor for RFS and OS. CONCLUSION: Patients with MSO confined to the ovary had an excellent survival outcome, despite varied treatment strategies, and the recurrent rate was relatively high. We recommend USO as the preferred surgical option in this population since more aggressive surgery does not improve outcomes and the benefits of RAI are uncertain.

FIGO Stage IV and Age Over 55 Years as Prognostic Predicators in Patients With Metastatic Malignant Struma Ovarii.

Introduction: Metastatic malignant struma ovarii (MSO) is an extremely rare disease that lacks treatment consensus and accurate prognosis. The objective of this study was to present the clinical, pathological, and treatment characteristics of metastatic MSO, while also investigate the overall survival (OS) rate and factors affecting prognosis in this population. Materials and Methods: A total of 79 cases of metastatic MSO were reviewed, including four cases of metastatic MSO from our hospital and 75 cases selected from the literature. Logistic regression was used to identify potential factors affecting disease free survival (DFS). The Kaplan-Meier method and log-rank test were used to determine OS; further Cox regression was used to evaluate factors affecting OS. Results: The mean age of all the patients at diagnosis was 43.8 years. The most common metastatic sites were peritoneum, bone, liver, omentum and lung in descending order. Only two patients (2.6%) coexisted with local primary thyroid cancer. Follicular carcinoma (41.8%) as the most prevalent subtype, followed by papillary carcinoma, follicular variant of papillary carcinoma, and mixed follicular-papillary carcinoma. 36.7% of the patients received conservative surgery, 43.0% of them underwent aggressive surgery, and 15.2% of them did not receive any surgery. 74.7% of patients who received adjuvant therapy underwent radioiodine therapy (RAI). Logistics regression revealed that FIGO stage IV was the only prognostic factor in predicting DFS (P = 0.002; Odds Ratio [OR] 5.333; 95% confidence interval [CI]: 1.839-15.471). Only seven deaths occurred. The OS rates at 5, 10, 15 years were 89.3, 82.4, 65.9%, respectively. Multivariate analysis showed age over 55 years (P = 0.006; OR 9.362; 95%CI: 1.895-46.246) was the only risk factor for OS. Conclusion: Patients with metastatic MSO have an excellent disease-specific OS rate, FIGO stage IV and age over 55 years were two factors affecting disease prognosis. Conservative surgery with residual ablation by RAI after total thyroidectomy should be preferred since the benefits of aggressive surgery are uncertain.

Long-term Outcomes of Bone Conduction Hearing Implants in Patients With Bilateral Microtia-atresia.

OBJECTIVES: To evaluate the long-term outcomes of three different types of bone conduction hearing implants (BCHI)-BAHA, Ponto, and Bonebridge-in Mandarin-speaking patients with bilateral microtia-atresia. METHODS: This cohort study enrolled 59 patients affected by bilateral microtia-atresia, with an upper bone conduction threshold limit of 30 dB HL at frequencies of 0.5 to 4 kHz. All subjects underwent unilateral BCHI surgery, including 26 (18 males, 8 females, of mean age 8.7 ±â€Š1.9 yr) implanted with BAHA devices; 10 (7 males, 3 females, of mean age 11.7 ±â€Š2.8 yr) implanted with Ponto devices; and 23 (14 males, 9 females, of mean age 9.0 ±â€Š1.8 yr) implanted with Bonebridge devices. The main outcome measures included long-term audiological benefits, patient satisfaction, and complications. Each subject acted as his or her own control. RESULTS: Two years after BCHI surgery, the mean hearing thresholds in the BAHA, Ponto, and Bonebridge groups had improved to 22.6 ±â€Š1.6 dB HL, 21.6 ±â€Š1.2 dB HL, and 22.5 ±â€Š1.5 dB HL, respectively. The mean percentages of subjects in these three groups recognizing speech at 65 dB SPL under quiet conditions were 97.7 ±â€Š4.2%, 96.3 ±â€Š1.1%, and 94.4 ±â€Š9.4%, respectively, whereas the mean percentages recognizing speech under noise conditions (signal:noise ratio +5) were 87.0 ±â€Š1.8%, 89.3 ±â€Š9.3%, and 85.3 ±â€Š4.7%, respectively. Questionnaires revealed patients' benefits and satisfaction with this surgery. Three (11.5%) of 26 patients in the BAHA group and 1 (10%) of 10 in the Ponto group experienced skin irritation, but all recovered after local treatment. Five (19.2%) patients in the BAHA group and two (20%) in the Ponto experienced abutment extrusion about 6 months postoperatively, with all achieving good results after revision surgery to replace the abutment. One (3.8%) patient in the BAHA group experienced local chronic inflammation and underwent surgery to replace the BAHA with a Bonebridge implant. One (4.3%) patient in the Bonebridge group developed a local infection 3 months postoperatively and underwent implant removal. CONCLUSIONS: All three BCHIs were well tolerated after long-term follow-up, and all improved audiometric thresholds and the intelligibility of speech in the presence of both quiet and noise. These implants should be considered valid and safe options for the functional rehabilitation of patients with bilateral microtia-atresia.