Newborn Hearing Screening - An Implementation Analysis.

BACKGROUND/AIM: Hearing impairment affects a small but significant percentage of newborns (0.1-0.4%). Newborn hearing screening (NHS) is recommended for early detection and treatment. The implementation of NHS can vary among countries. In this study, we present the methodology, organization, and technical requirements of NHS. This study analyzed results from a tertiary hospital, identified issues, and proposed solutions. PATIENTS AND METHODS: In the studied region, there are five maternity hospitals and a perinatal intensive care center and in 2020, there were 5,864 live births. Screening is performed at three levels. The first screening is conducted on the 2nd-3rd day of a newborn's life in a maternity hospital, the first rescreening on the 3rd-6th week at a relevant ENT department, and the second rescreening on the 3rd-6th month of life at the regional screening center where the central database is also held. RESULTS: In the studied region, 5,793 out of 5,864 (98.79%) newborns received NHS in 2020. Of these, 120 (2.07%) were tested positive on their first screening. Ninety-four patients (78.3%) of those attended the ENT department for a first rescreening. Thirty-four patients (0.59% of total) were tested positive again and referred to the regional screening center. Out of the 27 patients who attended the second rescreening, four (0.07% of the total) were ultimately diagnosed with hearing impairment. CONCLUSION: Our study found that newborn hearing screening (NHS) in our region achieved a high compliance rate of 98.8% for initial screenings in 2020. However, challenges remain in the rescreening process due to data management issues, inter-regional cooperation, and public awareness. The recent implementation of mandatory screenings, updated guidelines, and a centralized database is expected to enhance the effectiveness of NHS. Further research is needed to evaluate these improvements.

The impact of obesity, age, and gender on plasmatic levels of selected glycoprotein biomarkers and miRNA-499 in OSA patients.

BACKGROUND: The current obstructive sleep apnea (OSA) diagnostic uses polysomnography or limited polygraphy and requires specialized personnel and technical equipment. Glycoprotein biomarkers and microRNAs are being explored as a possible new method for screening. We aimed to evaluate whether certain biomarkers and microRNA, previously identified as related to OSA, could be influenced by factors such as gender, age, and obesity level in patients with OSA. METHODS: In this retrospective analytical study, patients with moderate to severe OSA (n = 130) were compared with the control group. Serum levels of selected biomarkers and microRNA were taken from both groups. The group of OSA patients was then stratified by gender, obesity level, and age to see the possible influence of those variables on biomarker levels. RESULTS: Levels of all studied biomarkers - C-reactive protein (CRP), high-sensitivity troponin I (hsTnI), pentraxin-3 (PTX-3), and microRNA-499 were significantly higher in patients with OSA compared to the control group. In the OSA group only hsTnI showed a statistically significant relationship with gender. Levels of CRP and hsTnI showed a significant dependence on the level of obesity. Dependency on age was proven for hsTnI. CRP, PTX-3, and microRNA-499 did not have any statistically significant relationship with age. CONCLUSION: We found that serum levels of pentraxin-3 and microRNA-499 in patients with moderate to severe obstructive sleep apnoea are independent of gender, obesity, and age. CRP was affected by the level of obesity and hsTnI was influenced by all 3 variables. We consider these findings important for further research of OSA biomarkers.

SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma.

SMARCB1-deficient sinonasal adenocarcinoma is a rare variant of SWI/SNF-deficient malignancies with SMARCB1 loss and adenocarcinoma features. More than 200 high-grade epithelial sinonasal malignancies were retrieved. A total of 14 cases exhibited complete SMARCB1 (INI1) loss and glandular differentiation. SMARCA2 and SMARCA4 were normal, except for one case with a loss of SMARCA2. Next-generation sequencing (NGS) and/or fluorescence in situ hybridization (FISH) revealed an alteration in the SMARCB1 gene in 9/13 cases, while 2/13 were negative. Two tumors harbored SMARCB1 mutations in c.157C > T p.(Arg53Ter) and c.842G > A p.(Trp281Ter). One harbored ARID1B mutations in c.1469G > A p.(Trp490Ter) and MGA c.3724C > T p.(Arg1242Ter). Seven tumors had a SMARCB1 deletion. One carried an ESR1 mutation in c.644-2A > T, and another carried a POLE mutation in c.352_374del p.(Ser118GlyfsTer78). One case had a PAX3 mutation in c.44del p.(Gly15AlafsTer95). Histomorphology of SMARCB1-deficient adenocarcinoma was oncocytoid/rhabdoid and glandular, solid, or trabecular in 9/14 cases. Two had basaloid/blue cytoplasm and one showed focal signet ring cells. Yolk sac tumor-like differentiation with Schiller-Duval-like bodies was seen in 6/14 cases, with 2 cases showing exclusively reticular-microcystic yolk sac pattern. Follow-up of a maximum of 26 months (median 10 months) was available for 8/14 patients. Distant metastasis to the lung, liver, mediastinum, bone, and/or retroperitoneum was seen in 4/8 cases. Locoregional failure was seen in 75% of patients, with 6/8 local recurrences and 3 cervical lymph node metastases. At the last follow-up, 5 of 8 (62%) patients had died of their disease 2 to 20 months after diagnosis (median 8.2 months), and 3 were alive with the disease. The original diagnosis was usually high-grade non-intestinal-type adenocarcinoma or high-grade myoepithelial carcinoma. A correct diagnosis of these aggressive tumors could lead to improved targeted therapies with potentially better overall disease-specific survival.

Outcome of Continuous Positive Airway Pressure Adherence Based on Nasal Endoscopy and the Measurement of Nasal Patency-A Prospective Study.

The gold standard for treating obstructive sleep apnea in adults is continuous positive airway pressure (CPAP). However, it can be difficult to convince patients to adhere to this therapy. The aim of this study was to determine the relationship between nasal endoscopy findings/nose patency and CPAP adherence. Material and methods: A cohort of 450 consecutive patients suspected of having OSA were prospectively enrolled. For further analyses, 47 OSA patients undergoing CPAP treatment were selected (13 females and 34 males, average age, 65.3 years, BMI 34.1, apnea-hypopnea index. AHI 51.0). The patients were divided into two groups: patients with good CPAP adherence (n = 35) and patients who did not adhere to CPAP therapy (n = 12). The influence of nasal endoscopy and flow measurement on CPAP adherence was explored. Results: We found a statistical independence between adherence to CPAP and AHI (p = 0.124), T90 (p = 0.502), endoscopic findings (p = 0.588) and nasal patency measured by a flowmeter (p = 0.498). Conclusions: In our studied sample, endoscopic findings and nasal patency measured by a flowmeter were not predictors of CPAP non-adherence in the first year of the treatment. Our data show that while an endoscopic finding in the nasal cavity could indicate that a patient has a severe obstruction, compliance with CPAP therapy is not reduced in these patients and neither is it reduced with a decrease in nasal flow, according to our observation.

A Comparison of the Reliability of Five Sleep Questionnaires for the Detection of Obstructive Sleep Apnea.

The aim of this study was to compare the reliability of five sleep questionnaires in detecting the occurrence of obstructive sleep apnea (OSA). The study was conducted on a group of 201 patients. The patients completed five sleep questionnaires: the Epworth Sleepiness Scale (ESS), the STOP-Bang questionnaire, the STOP questionnaire, the Berlin questionnaire (BQ) and the Pittsburgh Sleep Quality Index (PSQI). Subsequently, the patients were examined using limited polygraphy, and the sensitivity and specificity of the questionnaires were evaluated. The STOP-Bang, Berlin and STOP questionnaires had the highest sensitivity for OSA detection (81.6%, 78.7%, and 74.2%, respectively), while the sensitivities of PSQI and ESS were low (50.8% and 34.5%). The ESS, STOP-Bang, STOP and Berlin questionnaires had the highest specificity (82.6%, 75%, 61.9%, and 61.9%). In our sample, we found the STOP-Bang and Berlin questionnaires to be the most suitable for OSA screening with the highest sensitivities (81.6%, 78.7%) and satisfactory specificities (75%, 61.9%). The STOP questionnaire was also relatively reliable, especially given its time-saving nature; though short, it preserved satisfactory sensitivity (74.2%) and specificity (61.9%). The ESS and PSQI were unsuitable for OSA screening.

Acute Mediastinitis - Outcomes and Prognostic Factors of Surgical Therapy (A Single-Center Experience).

PURPOSE: The aims of this work were the retrospective analysis of a cohort of patients with acute mediastinitis treated at the authors' worksite over a 15-year period and the identification of factors that significantly affect the outcomes of the therapy. METHODS: During the period 2006-2020, 80 patients with acute mediastinitis were treated. Within the cohort, the following were observed: the causes and the type of acute mediastinitis, length of anamnesis, comorbidities, diagnostic methods, time from the diagnosis to surgery, types and number of surgical procedures, results of microbiological tests, complications, and outcomes of the treatment. RESULTS: The most common type of acute mediastinitis was descending mediastinitis (48.75%). A total of 116 surgical procedures were performed. Ten patients in the cohort died (12.5%). Patients older than 60 years were at a 6.8 times higher risk of death. Patients with more than two comorbidities were at a 14.3 times higher risk of death. The presence of yeasts in the culture material increased the risk of death by 4.4 times. CONCLUSION: Early diagnosis, removal of the cause of mediastinitis, sufficient mediastinal debridement, and multiple drainage thereof with the possibility of continual postoperative lavage are essential for the successful treatment of acute mediastinitis.

The potential of miR-499 plasmatic level as a biomarker of obstructive sleep apnea syndrome.

Background: Obstructive sleep apnea syndrome (OSAS) is one of the most common sleep-related breathing disorders. The aim of this study was to improve diagnostics in OSAS using blood circulating biomarkers. We consider the potential of cardiac-specific miRNAs in the diagnosis and risk assessment of cardiovascular complications. Materials & methods: Plasmatic levels of miR-1-3p, miR-133a-3p and miR-499a-5p were measured by reverse transcription-PCR and compared with the clinical status of OSAS patients and controls. Results: The level of miR-499 was higher (p = 0.0343) in OSAS patients (mean expression: 0.00561) compared with the controls (mean expression: 0.00003), using the multivariate logistic regression. Conclusion: The role of miR-499 in gene expression regulation during hypoxia and our findings indicate that miR-499 could be a new diagnostic biomarker for OSAS.

A Comparison of 18F-FDG-PET/MRI and 18F-FDG-PET/CT in the Cancer Staging of Locoregional Lymph Nodes.

AIM: The aim of the study was to evaluate the yields of 2-deoxy-2-[18F]-fluoro-D-glucose positron-emission tomography/magnetic resonance imaging (18F-FDG-PET/MRI) and 18F-FDG-PET/computed tomography (CT) for the detection of metastatic involvement of locoregional neck nodes in patients with head and neck malignancy. PATIENTS AND METHODS: A total of 90 patients (66 men and 24 women) met the inclusion criteria. Preoperative staging was performed: 53 examinations using PET/CT and 37 using PET/MRI. RESULTS: For PET/MRI, the study demonstrated a sensitivity of 89%, specificity of 64%, positive predictive value of 85%, and negative predictive value of 70%; PET/CT had a sensitivity of 95%, specificity 47%, positive predictive value of 82%, and negative predictive value of 78%. CONCLUSION: Both methods have a high yield in N-clinical staging with statistically insignificant differences. We assume PET/MRI to be the first-choice method in organ-targeted examinations, for pediatric patients and repeat examinations. In cases of MRI contraindication, PET/CT can be used with no impact on the quality of care.

Epidemiological and Microbiological Aspects of the Peritonsillar Abscess.

Peritonsillar abscess (PTA) is the most common complication of tonsillitis. Cultivation usually reveals a wide spectrum of aerobic and anaerobic microbiota. This retrospective study compared PTA incidence and the spectrum of individual microbial findings in groups of patients divided by gender, age, and season. Of the 966 samples cultivated, a positive cultivation finding was detected in 606 patients (62.73%). Cultivation findings were negative in 360 (37.27%), meaning no pathogen was present or only common microbiota was cultivated. The highest incidence of PTA was found in group I patients (19-50 years) (p ≤ 0.0001) and the most frequently cultured pathogens was Streptococcus pyogenes (36.23%). Gender seemed to have an influence on the results, with higher incidence found in males (p ≤ 0.0001). The analysis of correlation between PTA incidence and season did not yield statistically significant results (p = 0.4396) and no statistically significant differences were observed in individual pathogen frequency. PTA had a higher incidence in adult males and a slightly higher incidence in girls in childhood. The following findings are clinically significant and have implications for antibiotic treatment strategy: (1) the most frequently cultivated pathogen was Streptococcus pyogenes; (2) an increased incidence of anaerobes was proven in the oldest group (>50 years).

Improved prediction of CPAP failure using T90, age and gender.

Sleep apnea syndrome is associated with increased risk of cardiovascular disease. In treating older patients, there is a special emphasis put on minimally invasive and conservative procedures and a simple method for predicting the potential for treatment success is essential. Continuous positive airway pressure (CPAP) is the first choice for treatment, however, it is not always successful. In cases where CPAP was unsuccessful, treatment with bilevel positive airway pressure (BiPAP) is the next treatment option. In this study, we examine commonly evaluated respiratory parameters, obesity, and age relative to their ability to predict CPAP failure. We also tried to find differences in the predictive ability of these parameters in older and younger patients. The predictive ability, relative to CPAP failure, was examined for each individual parameter as well as for combinations of parameters. All variables had a statistical association with CPAP failure; failure prediction reliability ranged from poor to moderate. Combining T90, age, and gender can be used to find patients who will benefit from BiPAP as the first choice for treatment. An initial BiPAP indication can produce relevant reductions in treatment cost.