A Tagging Polymorphism in Fat Mass and Obesity-Associated (FTO) Gene Is Associated with Sepsis Status in Children.

INTRODUCTION: Sepsis is one of the most common causes of death in patients admitted to intensive care units (ICUs). The development of sepsis is significantly influenced by genetic predisposition. In this study, we highlight a potential association between a variant of the fat mass and obesity-associated (FTO) gene and risk of sepsis in children and adolescents. METHODS: We investigated a first-intron tagging FTO polymorphism (rs17817449) by comparing a severe condition (SC) group, comprising 598 paediatric patients (ages 0-19 years) admitted to an ICU with fever, systemic inflammatory response syndrome (SIRS), sepsis, severe sepsis, septic shock, or multiple organ dysfunction syndrome (MODS), with a control group consisting of 616 healthy young adults. RESULTS: We observed a lower prevalence (p < 0.01; OR = 0.59, 95% CI = 0.39-0.87) of the FTO TT genotype in febrile and SIRS patients compared to patients with severe illness. There was a borderline trend towards a lower prevalence of the FTO TT genotype in the control group compared to the SC group (p < 0.09, OR = 0.81, 95% CI = 0.62-1.06). CONCLUSIONS: Our findings suggest that rs17817449, a common FTO polymorphism, may be a predictor of sepsis in paediatric patients, and that higher body weight is protective against this clinical complication.

Cartilage tympanoplasty for retraction pocket of the tympanic membrane in children.

Background: Retraction pocket (RP) of the tympanic membrane (TM) is a common pathology in children that can cause ossicular chain erosion, cholesteatoma formation, and potentially life-threatening complications of cholesteatoma. This study assessed the functional and anatomical results of cartilage grafting in children with severe RP of the TM. Methods: This was a retrospective review of 212 children from a tertiary referral center. Results: We identified significant differences in hearing results, indication criteria, and location of TM fixation between stages II and III of RP (according to Charachon). We observed a significantly higher incidence of RP in boys than in girls. Conclusions: Cartilage tympanoplasty for retraction pocket of the tympanic membrane in children is a safe procedure with good anatomical and hearing results.

Enrichment of human nasopharyngeal bacteriome with bacteria from dust after short-term exposure to indoor environment: a pilot study.

BACKGROUND: Indoor dust particles are an everyday source of human exposure to microorganisms and their inhalation may directly affect the microbiota of the respiratory tract. We aimed to characterize the changes in human nasopharyngeal bacteriome after short-term exposure to indoor (workplace) environments. METHODS: In this pilot study, nasopharyngeal swabs were taken from 22 participants in the morning and after 8 h of their presence at the workplace. At the same time points, indoor dust samples were collected from the participants' households (16 from flats and 6 from houses) and workplaces (8 from a maternity hospital - NEO, 6 from a pediatric hospital - ENT, and 8 from a research center - RCX). 16S rRNA sequencing analysis was performed on these human and environmental matrices. RESULTS: Staphylococcus and Corynebacterium were the most abundant genera in both indoor dust and nasopharyngeal samples. The analysis indicated lower bacterial diversity in indoor dust samples from flats compared to houses, NEO, ENT, and RCX (p < 0.05). Participants working in the NEO had the highest nasopharyngeal bacterial diversity of all groups (p < 0.05). After 8 h of exposure to the workplace environment, enrichment of the nasopharynx with several new bacterial genera present in the indoor dust was observed in 76% of study participants; however, no significant changes were observed at the level of the nasopharyngeal bacterial diversity (p > 0.05, Shannon index). These "enriching" bacterial genera overlapped between the hospital workplaces - NEO and ENT but differed from those in the research center - RCX. CONCLUSIONS: The results suggest that although the composition of nasopharyngeal bacteriome is relatively stable during the day. Short-term exposure to the indoor environment can result in the enrichment of the nasopharynx with bacterial DNA from indoor dust; the bacterial composition, however, varies by the indoor workplace environment.

Improvement in quality of life comparing noninvasive versus invasive hearing rehabilitation in children.

Objectives: The young population requires early rehabilitation of their hearing loss for normal cognitive, auditive hence social development. All of which, in turn, may have an impact on quality of life (QoL). This study aims to evaluate QoL between two different bone conduction (BC) hearing devices: a noninvasive adhesive hearing aid (Adhear [ADH]) vs. an active transcutaneous implant (Bonebridge [BB]). Methods: This study composed of 12 BB and 15 ADH users. Pure tone as well as speech in noise and quiet measurements were evaluated and compared to the Assessment in QoL questionnaire (AQoL-6d). Results: Freefield results showed significant improvements for both devices compared to the unaided condition (p < .0001). Emphasis needs to be drawn on the different unaided level of conductive hearing loss as well as the indication range for both evaluated device groups: the ADH subjects exhibited a mean BC value of 9.50 ± 7.96 dB HL (the indication range up to 25 dB) and the BB subjects a mean of 23.33 ± 25.66 dB HL (the indication range up to 45 dB). Speech perception in quiet and in noise was significantly improved (p < .05; p < .001, respectively). QoL was significantly improved for both treatments (p < .05) but was not different among the devices, and the values were similar to their normal hearing, age, and sex-matched control group. High correlations were found between QoL utility scores and improved PTA4 in the aided condition (r 2 = .8839 and .7810 for BB and ADH, respectively). Conclusion: Our results show that both devices offer significant beneficial audiological rehabilitations with significantly increased QoL. However, the underlying condition and the unaided degree of hearing loss, hence the required higher stimulation must be the deciding factor when opting for a hearing device, and this should be independent of age. Level of evidence: 2c.

Bonebridge Implantation in Treacher-Collins Syndrome With Conductive Hearing Loss-Case Report.

The Bonebridge (BB) was the first active transcutaneous implantation system for bone conduction. The main indications are conductive or mixed hearing loss and single-sided deafness. Treacher-Collins syndrome (TCS) is a rare genetic disease that affects craniofacial development. The disorder results in deformations of facial structure including ear malformations, especially microtia and ear canal atresia. These patients suffer from conductive hearing loss. CT scans often show unfavorable temporal bone anatomy making placement of an implant difficult. For implantable hearing rehabilitation, patients may decide for conduction implants, such as a BAHA, a Ponto, a Vibrant Soundbridge, or a Bonebridge. In this case report, we present 2 patients with TCS implanted with the Bonebridge system, their audiological results, and quality of life.

Lipoprotein Subfractions Associated with Endothelial Function in Previously Healthy Subjects with Newly Diagnosed Sleep Apnea-A Pilot Study.

BACKGROUND: Obstructive sleep apnea (OSA) activates several pathophysiological mechanisms which can lead to the development of vascular diseases. Endothelial dysfunction (ED) is an initial step in the development of atherosclerosis. The association between ED and OSA has been described in several studies, even in previously healthy subjects. High-density lipoproteins (HDL) were generally considered to be atheroprotective, and low-density lipoprotein (LDL) to be an atherogenic component of lipoproteins. However, recent findings suggest a pro-atherogenic role of small HDL subfractions (8-10) and LDL subfractions (3-7). This study aimed to evaluate the relationship between endothelial function and lipid subfractions in previously healthy OSA subjects. MATERIAL AND METHODS: We prospectively enrolled 205 subjects with sleep monitoring. Plasma levels of triacylglycerols, total cholesterol, LDL, HDL, and their subfractions were assessed. Endothelial function was determined using peripheral arterial tonometry, and reperfusion hyperemia index (RHI) was assessed. RESULTS: Plasma levels of small and intermediate HDL subfractions have statistically significant pro-atherogenic correlations with endothelial function (p = 0.015 and p = 0.019). In other lipoprotein levels, no other significant correlation was found with RHI. In stepwise multiple linear regression analysis, small HDL (beta = -0.507, p = 0.032) was the only significant contributor in the model predicting RHI. CONCLUSIONS: In our studied sample, a pro-atherogenic role of small HDL subfractions in previously healthy subjects with moderate-to-severe OSA was proven.

Long-Term Device Satisfaction and Safety after Cochlear Implantation in Children.

(1) Objectives: For full benefit in children implanted with a cochlear implant (CI), wearing the device all waking hours is necessary. This study focuses on the relationship between daily use and audiological outcomes, with the hypothesis that frequent daily device use coincides with high device satisfaction resulting in better functional gain (FG). Confounding factors such as implantation age, device experience and type of device were considered. (2) Results: Thirty-eight CI children (65 ears) were investigated. In total, 76.92% of the children were using their device for >12 h per day (h/d), 18.46% for 9−12 h/d, the remaining for 6−9 h/d and one subject reported 3 h/d. The revision rate up to the 90-month follow-up (F/U) was 4.6%. The mean FG was 59.00 ± 7.67 dB. The Audio Processor Satisfaction Questionnaire (APSQ) separated for single unit (SU) versus behind the ear (BTE) devices showed significantly better results for the latter in terms of wearing comfort (WC) (p = 0.00062). A correlation between device use and FG was found with a device experience of <2 years (n = 29; r2 = 0.398), whereas no correlation was seen with ≥2 years of device experience (n = 36; r2 = 0.0038). (3) Conclusion: This study found significant relationships between daily device use and FG, wearing comfort and long-term safety (90 months).

Paediatric Deep Neck Infection-The Risk of Needing Intensive Care.

Deep neck infections are potentially dangerous complications of upper respiratory tract or odontogenic infections. The pathophysiology, clinical presentation, and potential spreading depend on the complex anatomy of the neck fascia. These infections can lead to severe pathological conditions, such as mediastinitis, sepsis, and especially airway impairment with difficult management. Because of the risk of life-threatening emergency situations and the possible impacts on the overall health status of affected children, their early recognition is of utmost importance. Torticollis, drooling, and stridor are the most common signs of advancing disease. Children presenting with these symptoms should be admitted to the paediatric intensive care unit for vital function monitoring, where the airway could be readily secured if function is compromised.

Fourth branchial cleft anomaly in a 7-month-old infant: A case report and literature review.

Fourth branchial cleft anomalies are rare head and neck congenital lesions seen in children. They present as a neck inflammatory mass and arise essentially on the left side of the neck. We report the case of a 7-month-old female with a mass of the neck associated with respiratory distress. The mass was diagnosed as an incomplete fourth branchial cleft fistula. Surgical revision of the neck abscess from an external approach and plasma coblation of the orifice in the pyriform fossa by an endoscopic approach were performed.

Two Bonebridge bone conduction hearing implant generations: audiological benefit and quality of hearing in children.

PURPOSE: The study aimed to evaluate audiological benefits, quality of hearing and safety of two Bonebridge generation: BCI601 and BCI602 (MED-EL, Innsbruck, Austria) in children. METHODS: Twelve children were implanted: five BCI601 and seven BCI602 comprising of ten conductive hearing loss, and two single sided deaf SSD subjects. Audiological outcomes tested were sound field audiometry, functional gain, speech recognition threshold (SRT50), speech recognition in noise (SPRINT) and localisation abilities. Subjective measures were Speech, Spatial and Qualities of Hearing Scale (SSQ12). RESULTS: The mean FG with the BCI601 was 25.0 dB and with the BCI602 28.0 dB. The benefit in SRT50 was 23.2 dB and 33.8 dB, respectively. The mean benefit in SPRINT was 15% and 6.7% and the localisation ability improved from 33.3° to 16° and from 26.2° to 17.6°, respectively. The two SSD subjects reported a FG of 17 dB, a benefit in SRT50 of 22.5 and a benefit in SPRINT of 20%. Subjective outcomes improved significantly and even exceeded the values of their age-and sex matched normal hearing peers. One revision was reported: a retroauricular emphysema above the implant occurred 12 months post-OP, it was resolved operatively with the implant still being functional. CONCLUSION: The pediatric cohort reports significant audiological benefit, even exceeding that of the age- and sex matched control. The combination of the high safety and audiological benefit makes the Bonebridge a comfortable and effective option in hearing rehabilitation in children.

Association between Swallowing-Related Questionnaire Responses and Pathological Signs on Videofluoroscopy in Children.

The aim of this study was to identify relationships in children between responses to specific questions of interest in a clinical questionnaire concerning swallowing-related difficulties and pathological signs on a videofluoroscopic swallowing study (VFSS). A prospective data analysis was made of children evaluated with swallowing disorder between January 2018 and April 2021 at a tertiary care centre. Each child enrolled in the study underwent a subjective evaluation (targeted questions) and instrumental examination (VFSS). In total, 51 children suffering from swallowing problems (32 with a neurological disorder and 19 without neurological disorder) were included into the study. Our results showed there was a correlation between the occurrence of specific symptoms (wet voice, wet breathing, recurrent respiratory infections, chronic mucus) and other pathological signs on a VFSS (laryngeal penetration, residua, nasal regurgitation). The evaluation of these specific questions is a reliable and useful method for the management of dysphagia in neonates and infants. It can help us in selecting those patients for which it is appropriate to perform a VFSS.

Extensive Parapharyngeal Abscess in a 4-Month-Old Infant.

Parapharyngeal abscess in an infant is a very rare condition. We present the case of a 4-month-old girl with large masses on the neck's left side. Computed tomography showed an extensive parapharyngeal abscess. Left tonsillectomy was performed under general anesthesia from a transoral approach, followed by an incision and evacuation of the abscess from the parapharyngeal space. Microbiological analysis identified a massive occurrence of Streptococcus intermedius.

Videolaryngoscopy vs. Direct Laryngoscopy for Elective Airway Management in Paediatric Anaesthesia: A prospective randomised controlled trial.

BACKGROUND: The indirect visualisation of the glottic area with a videolaryngoscope could improve intubation conditions which may possibly lead to a higher success rate of the first intubation attempt. OBJECTIVE: Comparison of videolaryngoscopy and direct laryngoscopy for elective airway management in paediatric patients. DESIGN: Prospective randomised controlled trial. SETTINGS: Operating room. PARTICIPANTS: 535 paediatric patients undergoing elective anaesthesia with tracheal intubation. 501 patients were included in the final analysis. INTERVENTIONS: Patients were randomly allocated to the videolaryngoscopy group (n  = 265) and to the direct laryngoscopy group (n  = 269) for the primary airway management. MAIN OUTCOME MEASURES: The first attempt intubation success rate was assessed as the primary outcome. The secondary outcomes were defined as: the time to successful intubation (time to the first EtCO2 wave), the overall intubation success rate, the number of intubation attempts, the incidence of complications, and the impact of the length of the operator's clinical practice. RESULTS: The study was terminated after the planned interim analysis for futility. There were no significant demographic differences between the two groups. The first attempt intubation success rate was lower in the videolaryngoscopy group; 86.8% (n  = 211) vs. 92.6% (n  = 239), P = 0.046. The mean time to the first EtCO2 wave was longer in the videolaryngoscopy group at 39.0 s ±â€Š36.7 compared to the direct laryngoscopy group, 23.6 s ±â€Š24.7 (P < 0.001). There was no difference in the overall intubation success rate, in the incidence of complications nor significant difference based on the length of the clinical practice of the operator. CONCLUSIONS: The first attempt intubation success rate was lower in the videolaryngoscopy group in comparison to the direct laryngoscopy group. The time needed for successful intubation with videolaryngoscopy was longer compared with direct laryngoscopy. TRIAL REGISTRATION: Clinicaltrials.gov identifier: NCT03747250.

Videofluoroscopic Swallow Study in Diagnostics of H-Type Tracheoesophageal Fistula in Children.

Esophageal atresia remains one of the most challenging congenital anomalies of the newborn. It can occur with or without tracheoesophageal fistula (TEF), and to date, there are still no universally recommended diagnostic procedures. The so-called H-type TEF is that without esophageal atresia, and its prevalence is lower than 5% of all TEFs. We present a case report of a newborn with regurgitation, vomiting, feeding problems, dyspnea, and repeated aspiration bronchopneumonia. A wide range of diagnostics procedures had been performed with negative results until we used videofluoroscopy, which revealed the H-type TEF and allowed appropriate treatment of the patient.

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.

BACKGROUND: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms. CASE REPORT: We present a 5 w/o female manifesting tonic-clonic seizures. Laboratory tests detected severe hypomagnesemia and hypocalcemia. The molecular genetic analysis revealed two novel mutations within the TRPM6 gene c.3308dupC (p.Pro1104Thrfs*28) (p.P1104Tfs*28) and c.3958C>T (p.Gln1302*) (p.Q1302*) and the patient was successfully treated with Mg supplementation. CONCLUSION: Ion disbalance should be taken into account in the differential diagnosis of infantile seizures. Accurate diagnosis of HSH together with appropriate treatment are crucial to prevent irreversible neurological outcomes.

Risk Factors for Postoperative Bleeding after Adenoidectomy.

IMPORTANCE: Postoperative bleeding is a common and potentially life-threatening complication. Precise identification of risk factors in addition to the basic ones, such as coagulation parameters, is certainly very desirable. OBJECTIVE: The aim of this study was to identify other possible risk factors for bleeding after adenoidectomy in children. DESIGN: This observational prospective study enrolled children undergoing adenoidectomy from October 2019 to February 2020, then evaluated the influence of possible risk factors for bleeding. SETTING: Tertiary pediatric otorhinolaryngology center. PARTICIPANTS: A total of 288 children aged 0-18 years undergoing adenoidectomy for recurrent upper respiratory tract infections, recurrent acute otitis media, secretory otitis media, and obstructive sleep apnea syndrome. MAIN OUTCOMES AND MEASURES: Increased blood pressure and time of surgery were identified as risk factors for bleeding after adenoidectomy. RESULTS: Elevated systolic (p = 0.046), diastolic (p = 0.012), and mean arterial blood pressure (p = 0.007) (Mann-Whitney U test) as adjusted for age-specific distributions and with corrections for height and weight, as well as time length of surgery (p < 0.001) (Fisher's exact test) were revealed as statistically significant risk factors for postoperative bleeding. Atmospheric pressure, surgeon's level of experiences, chronic inflammatory content in adenoid vegetation (AV), size of AV, recidivism of AV, recurrent infections of the upper respiratory tract, type of anesthesia, long-term using of drugs, and positive coagulation questionnaire or pathology in standard coagulation tests were not found to be risk factors for bleeding after adenoidectomy. CONCLUSIONS AND RELEVANCE: In this prospective study within a well-defined population of children, we evaluated increased blood pressure and time of surgery as risk factors for bleeding after adenoidectomy. These data bring new information that complements current knowledge in this field.

Pathogenesis of Retraction Pocket of the Tympanic Membrane-A Narrative Review.

Several theories describe the development of the retraction pocket of the tympanic membrane (RP). Many authors suggest that the negative middle ear pressure is the main reason responsible for developing this condition. A narrative review has been undertaken, and conclusions are drawn reflecting a current knowledge with our new observations in the histological and immunohistochemical study. Recent studies show the important role of inflammation in the development and progression of RP. A review of the available literature shows that the inflammation plays a key role in pathogenesis of the RP and its progression to the cholesteatoma. We support this statement with our new results from histological and immunohistochemical analysis of the RPs.

Retroauricular Emphysema as a Late Complication After Bonebridge Implantation: Case Report.

Bonebridge (BB) is the first active implantation system for bone conduction that is placed fully under the skin. Experience suggests that BB is characterized by low incidence of postoperative complications. This case report presents a rare case of a 16-year-old girl with incidence of emphysema occurring over the implant 1 year after operation. We performed a computed tomography scan that showed pockets of gas above the floating mass transducer so we provided the revision surgery and sealed the artificial opening with fat from the earlobe and fibrin glue. Since that time, no air has collected in the retroauricular area and the implant has been fully functional.

Salivary Gland Choristoma of the Middle Ear in a Child: A Case Report.

Salivary gland choristoma is an extremely rare middle ear pathology. We present the case of a 10-year-old girl with unilateral conductive hearing loss. Tympanotomy showed a nonspecific middle ear mass, absence of stapes, anomaly of incus, and displaced facial nerve. It was not possible to remove the mass completely. Histology confirmed salivary gland choristoma. The hearing in this case can be improved with a bone-anchored hearing aid.