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Κυριακή 19 Δεκεμβρίου 2021

The Voice Problem Impact Scales (VPIS)

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Patient-reported outcome measures (PROMs) are important for systematically assessing a person's perspectives and experiences with disease to inform clinical decision-making. However, PROMs can occasionally fail to capture subtle differences amongst subgroups. In response to this problem, the aim of the current study was to examine the convergent validity of four patient-reported voice activity and participation scales to better reflect and describe the impact of a voice problem in a patient's work, home, social and overall life.
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Πέμπτη 16 Δεκεμβρίου 2021

Indocyanine green fluorescence for parathyroid gland identification and function prediction: Systematic review and meta‐analysis

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Abstract

Background

To evaluate the diagnostic accuracies of indocyanine green (ICG) fluorescence for identifying parathyroid glands during surgery and predicting the postoperative function.

Methods

From six databases, 21 studies were finally included in the study. True-positive, true-negative, false-positive, and false-negative data were extracted for the analysis. The quality of each study was analyzed using the QUADAS-2 tool.

Results

The sensitivity of ICG-based parathyroid gland identification was 0.9380 (95% CI [0.9003, 0.9621]). The diagnostic odds ratio for ICG-based prediction of parathyroid gland function was 54.5652 [13.2059, 225.4570]. The area under the summary receiver operating characteristic curve was 0.909. Fluorescence intensity-based prediction presented higher diagnostic accuracy than that of score-based prediction. The incidence of postoperative hypoparathyroidism was higher in the group with a zero ICG score compared to the high scored group.

Conclusions

Identification of parathyroid gland and prediction of postoperative function using ICG are valuable to patients undergoing thyroidectomy or parathyroidectomy.

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Waardenburg syndrome: About seven cases

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Houda Mounji, Malika Benfdil, Youssef Lakhdar, Mohamed Chehbouni, Youssef Rochdi, Hassan Nouri, Abdelaziz Raji

Indian Journal of Otology 2021 27(3):144-147

Background: Waardenburg syndrome (WS) is an autosomal dominant inherited genetic condition that manifests with sensorineural deafness and pigmentation defects of the skin, hair, and iris. This genetically and clinically heterogeneous disease accounts for 2% of the congenitally deaf population. Objectives: The aim of our study is to determine epidemiological and clinical characteristics of this group to improve the management, especially for the hearing impairment. Methods: Seven cases were diagnosed during the examination of children with suspected congenital deafness. Results: The age of our children ranged from 1.3 to 5 years, with a median age of 3.6 years, with female predominance; no consanguineous marriage and fetal or perinatal history have been reported; there was family history of premature greying in four cases and deafness in two cases. Two patients had WS Type 1 with a dystopia canthorum, while four cases had WS Type 2. There was one patient with Waardenburg Klein or Shah syndrome. The otoscopy was normal in all children. Evoked auditory potentials, otoacoustic emissions, and tonal audiometry were performed; they had shown a congenital, sensorineural bilateral, and profound hearing loss >100 dB in all cases. All children had received a cochlear implantation followed by speech reeducation. A genetic consultation was carried out for all our children. Conclusion: WS is a relatively common genetic cause of sensorineural hearing loss. Early diagnosis and improvement of hearing impairment are most important for psychological and intellectual development of the children with WS.
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Impact of duration of residual inhibition on tinnitus masking in patients with and without hearing impairment

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Indranil Chatterjee, Geeta Gore

Indian Journal of Otology 2021 27(3):131-139

Introduction: Residual inhibition (RI) is described as a temporary reduction in the loudness of tinnitus as a result of stimulation from a noise. Aim: This study is aimed to determine the efficacy of durational aspects of tinnitus masking on self-reported tinnitus handicapped measures in patients with and without hearing impairment. Sample Size: Sixty participants were included and divided into two groups – Group A (mean age 44.7, standard deviation [SD] 12.02) included tinnitus participants with normal hearing and Group B (mean age 43.81, SD 12.79) included participants with hearing impairment. Methodology: Audiological evaluation was done after a detailed case history visual analog scale (VAS) and tinnitus handicapped inventory (THI) were used pre- and post-therapy to assess the severity of tinnitus. Tinnitus masking was done at the level MML + 20 dB at matched frequency of the tinnitus. Each group had three subgroups of ten participants for masking duration– 15, 20, and 30 min of RI. The therapy was terminated when the tinnitus disappeared or after 1 month (5 days a week). Statistical analysis was performed using Paired t-test, Independent t-test, and ANOVA. Results: There was a significant difference in the effect of tinnitus masking for pre- and post-data among different masking durations measured in VAS and THI irrespective of hearing status. 30-min masking duration can be used as a standardized norm for tinnitus masking. Conclusion: Thus, the study provides a structured temporal course for providing tinnitus masking.
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Difficult Airway Management in a Patient With Hereditary Hemorrhagic Telangiectasia

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To the Editor In reference to the recent publication by Safi et al regarding rapid sequence induction and intubation in a patient with hereditary hemorrhagic telangiectasia (HHT), I would like to congratulate the authors on a successful outcome. Also, I would like to suggest that, rather than mask ventilation after induction of anesthesia, consideration be given to awake fiber-optic oral/nasal intubation, as directed by the preoperative assessment, to establish the airway in patients with HHT undergoing elective procedures. Rapid sequence induction and emergency tracheostomy, in that order, could then be further on in the difficult airway algorithm, if needed, as in this case.
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The Effect of Tongue-Tie Release on Speech Articulation and Intelligibility

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Ear Nose Throat J. 2021 Dec 15:1455613211064045. doi: 10.1177/01455613211064045. Online ahead of print.

ABSTRACT

OBJECTIVE: The relationship between ankyloglossia and speech is controversial. The objective of this study was to determine the effect of tongue-tie release on speech articulation and intelligibility.

METHODS: A prospective cohort study was conducted. Pediatric patients (>2 years of age) being referred for speech concerns due to ankyloglossia were assesse d by a pediatric otolaryngologist, and speech articulation was formally assessed by a speech language pathologist using the Goldman-Fristoe Test of Articulation 2 (GFTA-2). Patients then underwent a tongue-tie release procedure in clinic. After 1 month, speech articulation was reassessed with GFTA-2. Audio-recordings of sessions were evaluated by independent reviewers to assess speech intelligibility before and after tongue-tie release.

RESULTS: Twenty-five participants were included (mean age 3.7 years; 20 boys). The most common speech errors identified were phonological substitutions (80%) and gliding errors (56%). Seven children (28%) had abnormal lingual-alveolar and interdental sounds. Most speech sound errors (87.9%) were age/developmentally appropriate. GFTA-2 standard scores before and after tongue-tie release were 85.61 (SD 9.75) and 87.54 (SD 10.21), respectively, (P=.5). Mean intelligibility scores before and after tongue-tie release were 3.15 (SD .22) and 3.21 (SD .31), respectively, (P=.43).

CONCLUSION: The majority of children being referred for speech concerns thought to be due to ankyloglossia had age-appropriate speech errors at presentation. Ankyloglossia was not associated with isolated tongue mobility related speech articulation errors in a consistent manner, and there was no benefit of tongue-tie release in improving speech articulation or intelligibility.

PMID:34911396 | DOI:10.1177/01455613211064045

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Assessing Risk of Severe Complications after Endoscopic Transnasal Transsphenoidal Surgery: A Comparison of Frailty, American Society of Anesthesiologists, and Comorbidity Scores

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J Neurol Surg B Skull Base
DOI: 10.1055/s-0041-1740577

Objective This study aimed to improve age-independent risk stratification for patients undergoing endoscopic transnasal transsphenoidal (TNTS) approach to pituitary mass resection by investigating the associations between frailty, American Society of Anesthesiologists (ASA), and comorbidity scores with severe complications following TNTS. Design This study is a retrospective review. Setting This review was conducted utilizing the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) database. Participants A total of 680 cases of TNTS identified from 2010 to 2013 were included in this study. Main Outcome Measures The modified frailty index (mFI) was calculated to quantify frailty. ASA and Charlson's comorbidity index (CCI) scores were obtained as physiologic status and comorbidity-based prognostic markers. Severe complications were separated into intensive care unit (ICU)-level complications, defined by Clavien–Dindo grade IV (CDIV) criteria, and mortality. Results Overall, 24 CDIV complications (3.5%) and 6 deaths (0.9%) were recorded. Scores for mFI (p = 0.01, R 2 = 0.97) and ASA (p = 0.04., R 2 = 0.87) were significantly correlated with CDIV complications. ASA scores were significantly correlated with mortality (p = 0.03, R 2 = 0.87), as well as independently associated with CDIV complication by multivariable regression models (odds ratio [OR] = 2.96, 95% confidence interval [CI]: 1.35–6.83, p < 0.01), while mFI was not. CCI was not significantly associated with CDIV complications or mortality. A multivariable regression model incorporating ASA had a lower Akaike's Information Criteria (AIC; 188.55) than a model incorporating mFI (195.99). Conclusion Frailty and physiologic status, as measured by mFI and ASA scores respectively, both correlate with ICU-level complications after TNTS. ASA scores demonstrate greater clinical utility than mFI scores; however, as they are more easily generated, uniquely correlated with mortality and independently associated with ICU-level complication risk on multivariable regression analysis.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

Article in Thieme eJournals:
Table of contents  |  Abstract  |  Full text

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Risk of Diabetes in Patients with Long-Standing Graves' Disease: A Longitudinal Study

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Endocrinol Metab (Seoul). 2021 Dec 16. doi: 10.3803/EnM.2021.1251. Online ahead of print.

ABSTRACT

BACKGROUND: The detrimental effects of excessive thyroid hormone on glucose metabolism have been widely investigated. However, the risk of diabetes in patients with long-standing hyperthyroidism, especially according to treatment modality, remains uncertain, with few longitudinal studies.

METHODS: The risk of diabetes in patients with Graves' disease treated with antithyroid dru gs (ATDs) for longer than the conventional duration (≥2 years) was compared with that in age-and sex-matched controls. The risk was further compared according to subsequent treatment modalities after a 24-month course of ATD: continuation of ATD (ATD group) vs. radioactive iodine ablation (RIA) group.

RESULTS: A total of 4,593 patients were included. Diabetes was diagnosed in 751 (16.3%) patients over a follow-up of 7.3 years. The hazard ratio (HR) for diabetes, after adjusting for various known risk factors, was 1.18 (95% confidence interval [CI], 1.10 to 1.28) in patients with hyperthyroidism. Among the treatment modality groups, the RIA group (n=102) had a higher risk of diabetes than the ATD group (n=4,491) with HR of 1.56 (95% CI, 1.01 to 2.42). Further, the risk of diabetes increased with an increase in the ATD treatment duration (P for trend=0.019).

CONCLUSION: The risk of diabetes was significantly higher in patients with long-standing Graves' disease than in t he general population, especially in patients who underwent RIA and prolonged ATD treatment. Special attention to hyperglycemia during follow-up along with effective control of hyperthyroidism may be necessary to reduce the risk of diabetes in these patients.

PMID:34915605 | DOI:10.3803/EnM.2021.1251

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Τετάρτη 15 Δεκεμβρίου 2021

Identification of heterogeneity and prognostic key genes associated with uveal melanoma using single-cell RNA-sequencing technology

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Uveal melanoma (UM) is the most common intraocular malignancy in adults. The prognosis is poor once metastasis has developed. The treatment of metastatic UM remains challenging nowadays due to lacking a deep understanding of the biological characteristics of this disease. Here, we revealed the cell subpopulations w ith distinct functional status and the existence of cells with high invasive potential within heterogeneous primary and metastatic UM. The single-cell sequencing data were retrieved from GSE139829 and GSE138433, through which we identified a new cell cluster related to metastatic UM as a unique type of immune cell. The cell–cell communication was conducted by 'Cellchat' to understand the cell crosstalk between these immune cells and their surrounding cells. The crucial signals contributing most to outgoing or incoming signaling of this cell group were identified to reveal the crucial pathway genes. Furthermore, we judged the prognostic value of these candidates on the basis of the data downloaded from The Cancer Genome Atlas. The results demonstrated that the increased IL10, SELPLG, EPHB and ITGB2 signaling pathways could be promising predicting factors for the patient prognosis in UM. Conclusively, we discover the potential key signals of UM for occurrence and metastasis, and also provide a theoretical basis for judging whether there is a high risk of metastasis or recurrence. * Songlin Sun and Rui Shi contributed equally to the writing of this article. Received 25 May 2021 Accepted 24 August 2021 Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website, www.melanomaresearch.com. Correspondence to Fengyuan Sun, PhD, MD, Tianjin Medical University Eye Hospital, Xiqing District, No.251 Fukang Road, Tianjin 300384, Tianjin, China, Tel: +086 022 86428810; e-mail: tianjiny2020@163.com Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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Thyroid Cancer Incidence Trends

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Objective

To analyze thyroid cancer incidence trends among Filipinos relative to non-Filipino Asians and non-Hispanic Whites in the US.

Study Design

Population-based analysis of cancer incidence data.

Methods

Population-based analysis of cancer incidence data from Surveillance, Epidemiology, and End Results 9 detailed Asian/Pacific Islander subgroup incidence and population datasets. Adult patients aged 20 and older with thyroid cancer diagnosed in 2004 to 2014 were included. Annual percent change (APC) of the incidence rates were calculated using joinpoint regression analysis.

Results

The incidence rates were 19.57 (95% CI 19.03–20.12) per 100,000 for Filipinos, 10.45 (95% CI 10.22–10.68) per 100,000 for non-Filipino Asians, and 13.94 (95% CI 13.85–14.02) per 100,000 for non-Hispanic Whites. The highest increase was seen among non-Hispanic Whites (average APC 5.04, 95% CI 4.61–5.46). Incidence rates of tumors ≤ 2 cm remained stable among Filipinos but increased in non-Filipino Asians (average APC 5.38, 95% CI 2.51–8.34) and non-Hispanic Whites (average APC 5.81 95% CI 4.52–7.11).

Conclusion

Filipinos have high incidence of thyroid cancer compared with other racial/ethnic groups. However, non-Hispanic Whites have the highest increase in incidence rates, resulting in a significant narrowing of the gap in incidence rates between Filipinos and non-Hispanic Whites. This is most likely due to enhanced detection of small tumors in non-Hispanic Whites. Laryngoscope, 2021

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Concomitant Variants in NF1, LZTR1, and GNAZ Genes Probably Contribute to the Aggressiveness of Plexiform Neurofibroma and Warrant Treatment with MEK Inhibitor

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Abstract

Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggesting contributions of other modifiers in addition to somatic loss of NF1. Here, we investigated a life-threatening plexiform neurofibroma in a 9-month-old female infant with NF1. Germline mutations in two Rasopathy-associated genes were identified using whole exome sequencing - a de-novo pathogenic variant in the NF1 gene, and a known pathogenic variant in the LZTR1 gene. Somatic analysis of the plexiform neurofibroma revealed NF1 loss of heterozygosity and a variant in GNAZ, a gene encoding a G Protein Coupled Receptor. Cells expressing mutant GNAZ exhibited increased ERK 1,2 activation compared to those expressing wild type GNAZ. Taken together, we suggest the variants in NF1, LZRT1, and GNAZ act synergistically in our patient, leading to MAPK pathway activation and contributing to the severity of the patient's plexiform neurofibromatosis. After treatment with the MEK inhibitor, trametinib, a prominent clinical improvement was observed in this patient. This case study contributes to the knowledge of germline and somatic non-NF1 variants affecting the NF1 clinical phenotype and supports use of personalized, targeted therapy.

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