Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. METHODS: In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) using in silico methods. RESULTS: Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel MITF p. Pro338Leu missense mutation was predicted to change the protein structure and function. CONCLUSION: A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.

Clinical, microscopic and molecular presentation in pediatric versus adult old world cutaneous Leishmaniasis.

BACKGROUND: Cutaneous leishmaniasis (CL) is an emerging uncontrolled tropical parasitic disease in endemic and nonendemic areas with a high prevalence in the pediatric age group. METHOD: A total of 382 individuals from Lebanon, Saudi Arabia, Pakistan, and Syria diagnosed with CL by punch biopsy/scrapings were grouped into adults (>18 years) and pediatrics (≤18 years). Data recorded included clinical features [number, location, type, size, and extensiveness (size larger than 3 cm, more than 5 lesions per patient, lesion present for more than 12 months, special types, disfiguring lesion or closeness to vital sensory organs) of lesions] and microscopic findings [Ridley's Parasitic Index and Ridley's Pattern]. In addition, molecular confirmation and speciation were performed. RESULTS: In comparison with adults, patients in the pediatric group (n = 158, 41.4%) showed significantly higher number of lesions, more facial involvement, and more extensive disease (P < .05). Microscopically, a more advanced Ridley's pattern was observed. The other variables did not show statistical difference between the two groups. CONCLUSION: Historically, CL has been known to be a neglected tropical disease of poverty and pediatric predilection. In our pediatric group, CL manifests with more extensive disease clinically mirrored by more advanced lesions microscopically.

Effect of vitamin D deficiency on the laryngo-pharyngeal tract.

OBJECTIVE: To investigate the effect of vitamin D deficiency on the laryngopharyngeal tract. STUDY DESIGN: Prospective cohort study. SETTING: Tertiary care center. SUBJECTS AND METHODS: A total of 38 human subjects were prospectively recruited, equally divided into two groups. The Vitamin D deficiency group defined as 25-OH<25ng/dl and the control subjects with normal vitamin D level defined as 25-OH>25ng/dl. The presence and severity of vocal tract symptoms was assessed using the Vocal Tract Discomfort score. RESULTS: There was no significant difference in vocal tract discomfort score for frequency and severity between patients with Vitamin D deficiency and patients with no vitamin D deficiency (p value 0.272). However there was a significant difference in the mean frequency of burning, aching, soreness and lump sensation (p value<0.05) in patients with vitamin D deficiency compared to those with no vitamin D deficiency. There was also a significant difference in the means of vocal tract severity symptoms, namely for burning and aching between patients with vitamin D deficiency compared to patients with no vitamin D deficiency (p value<0.05). CONCLUSION: Subjects with vitamin D deficiency do not have a higher vocal tract discomfort score than subjects with no vitamin D deficiency. However the frequency and severity of certain vocal tract discomfort symptoms was higher and can be based hypothetically on the similarity in structure between the laryngopharyngeal complex and the musculoskeletal system.

Head and neck cutaneous leishmania: clinical characteristics, microscopic features and molecular analysis in a cohort of 168 cases.

Lebanon, an underendemic area for cutaneous leishmania (CL), is suffering from a CL outbreak brought by the massive population influx from endemic Syria. CL affects mainly exposed areas; therefore, the head and neck (HN) region is highly susceptible. Individuals diagnosed and speciated with CL (n = 168) using molecular and microscopic analysis on punch biopsy/scrapings were studied. Clinical data, parasitic index (PI) and Ridley's Pattern (RP) were recorded. The HN was divided into 11 anatomic locations. Of 168 patients, 96 patients (57.1 %) had HN involvement and 72 (42.9 %) had no HN involvement. Lesions from the HN were significantly more common in younger patients and were more prone for ulceration, had larger size, higher PI and more advanced RP (p < 0.05). There was no difference in the anatomic distribution of lesions among age groups and genders in the HN group. The cheek area was the most HN involved location. Lesions were less commonly encountered in the veiled area in women. In the community we studied, HN is commonly involved by CL. Lesions with HN involvement were encountered more in pediatric age group and showed more extensive features.

Comparing ATA guidelines vs TI-RADS for evaluation of pediatric thyroid lesions.

OBJECTIVE: To compare TI-RADS vs ATA guidelines for pediatric thyroid lesions based on ultrasound, in a retrospective study over 10 years. The primary outcome measure was sensitivity of both guidelines in diagnosing a thyroid malignancy on Fine Needle Aspiration (FNA) results. METHODS: Retrospective data collection of all pediatric patients who had an FNA at the Primary Children's Hospital for thyroid lesions. Both guidelines were compared to determine which set of guidelines is most sensitive based on final outcome of pathology. RESULTS: Seventy-seven patients were included in the study. All 77 underwent FNA as recommended by the ATA guidelines. 54.5% were benign, 22.1% were suspicious, and 23.4% were malignant lesions. Following the TI-RADS guidelines, 40.5% of these patients could have skipped the FNA. Using the ATA guidelines, all malignant lesions would have undergone FNA. However, using the TI-RADS guidelines, some patients with malignant lesions would have been ignored (5.6%) and some followed (22.2%) showing overall less sensitivity (75%). CONCLUSIONS: The ATA ultrasound guidelines for evaluation of thyroid nodules in children are more sensitive in screening for well-differentiated thyroid malignancy. Increased sensitivity is due in part to the size constraint within the TIRADS system. All providers who evaluate thyroid nodules in children should use the ATA pediatric guidelines to avoid missing smaller malignancies in children.

Surgical vs interventional radiology drainage of neck abscesses in pediatric patients.

OBJECTIVE: To compare outcomes using an open surgical incision and drainage (S-ID) versus an aspiration under interventional radiology drainage (A-ID) of pediatric neck abscesses. The primary outcome measure was successful drainage requiring one intervention, and the secondary outcome measures were readmission rates and overall cost to the healthcare system. METHODS: Retrospective data collection of all pediatric patients treated at the Primary Children's Hospital for neck abscess from 2008 to 2020. Patients who did not require drainage were not included. Comparison between S-ID and A-ID was performed according to the primary and secondary outcomes. RESULTS: Two hundred fifty nine patients were included in the study. Twenty-six patients had A-IR and 234 patients had S-ID. Patient demographics were not significantly different between both groups. Overall length of stay was greater in the A-ID group (5 vs 3.3 days) (p < 0.05). A second procedure was more frequent in the A-ID group with 11/26 (42%) versus 12/234(5%) in the S-ID group (P = 0.001) even after controlling for multiple possible confounding factors. The rate of readmission was also higher in the A-ID group with 3/26 (11%) versus 7/234 (3%) in the S-ID group (P = 0.006). Both groups showed similar overall cost (P = 0.621). CONCLUSIONS: A-ID and S-ID are both methods to treat head and neck abscess requiring drainage. However, overall results indicate a higher rate of failure requiring a second intervention and a higher rate of readmission in the A-ID group. In our study cost was noted to be similar between both methods.

Long-term Outcomes of Vocal Fold Paralysis Following Patent Ductus Arteriosus Ligation in Neonates.

INTRODUCTION: In patients undergoing patent ductus arteriosus (PDA) ligation there is a significant risk of left vocal fold paralysis (LVFP) particularly in premature neonates who are small for gestational age. The objective of this study is to determine the incidence of LVFP in infants following PDA ligation and report on long-term outcomes in patients with LVFP. METHODS: We performed a prospective study of patients undergoing PDA ligation in the newborn intensive care unit (NICU) between April 2004 and May 2014. Following PDA ligation, flexible laryngoscopy was performed to assess vocal fold mobility. Patients were then followed longitudinally to determine long-term outcomes. RESULTS: A total of 163 infants underwent PDA ligation. Thirty-six patients (22%) developed LVFP following the procedure. Twenty-five percent of neonates <1500 g experienced LVFP versus 5% of patients >1500 g (p = 0.033). Patients with LVFP were more likely to require a feeding tube (64% vs. 19.6%; p < 0.05) and spent more time in the NICU (135 days vs. 106 days; p < 0.05). Twenty-four patients received long-term follow-up. Six (25%) had complete resolution of LVFP, 10 (42%) were compensated, and 8 (33%) demonstrated persistent LVFP with no improvement. CONCLUSIONS: The incidence of LVFP after PDA ligation is high especially in extremely low birth weight children. The majority of patients recovered well with time, but further surgical intervention was required in uncompensated cases. Long-term follow-up of these patients is needed to ensure improvement. Laryngoscope, 133:1257-1261, 2023.

Measurements of The Pediatric Cartilaginous Eustachian Tube: Implications for Balloon Dilation.

OBJECTIVES: (1) Measure the cartilaginous Eustachian tube (ET) length using a computed tomography (CT) scan and (2) develop a prediction model to measure this length without the need of a CT scan. STUDY DESIGN: CT measurements in children. SETTING: Children's Hospital. METHODS: CT scans were reformatted to project the cranial and caudal limits of the cartilaginous ET. The length was measured in 193 children who underwent a neck CT scan for nonotologic indications. Five physicians independently reviewed all or some of these measures. Four different models based on age, age ranges, weight, and height were created and compared to predict ET length. RESULTS: The cartilaginous ET length was 25.3 ± 3.1 mm for the right and for the left ear. The mean ET length for the females was statistically significantly less than the length in males. The lower ET lengths in children as old as 5 years of age were less than the 2 cm adult criteria used for catheter insertion. All 4 models performed equally well in predicting ET length. Model number 4, which is based on height, was the easiest to calculate ET length. CONCLUSION: The cartilaginous portion of the pediatric ET can be measured with good precision using reformatted CT images. We caution against using the "adult" criteria of 2 cm for catheter insertion in children, especially those younger than 5 years of age. We recommend using a model utilizing height measures to estimate ET length or direct measurements from a reformatted CT scan. LEVEL OF EVIDENCE: NA Laryngoscope, 133:396-402, 2023.

Customizable interdental splinting for repair of pediatric mandibular fractures in children with mixed dentition: A novel technique.

OBJECTIVE: Repair of pediatric mandibular fractures (PMFs) can be challenging due to the lack of permanent dentition for immobilization, and the presence of unerupted teeth and growth plates in the mandible limiting the space for fixation. Interdental splinting (IDS) has been advocated to provide temporary fixation without the need for mandibular plating; however, there is sparse description of the surgical methodology, and data on long term outcomes are even more limited. The aim of this study is to present our technique and outcomes using a novel technique for IDS repair of pediatric mandible fractures. STUDY DESIGN: Observational retrospective chart review. SETTING: Tertiary care pediatric hospital. SUBJECTS AND METHODS: Pediatric patients requiring operative repair for mandibular fracture at our tertiary care institution between 2004 and 2021 were included. Patients over 18 years of age, those who died due to associated injuries, or those who underwent non-IDS repairs were excluded. Subjects with at least 3 months of follow-up were assessed for efficacy of surgical repair and short-term adverse outcomes, and at least 1 year for long-term adverse events. Descriptive statistics were obtained. RESULTS: Twenty-three children were included in the study with an average age of 7.4 years (range 2-17 years). Fifty-two percent (52.2%) were female. The most common fracture site was the condyle, occurring in 16 children (70%). The indication for operative repair in all cases was malocclusion. The average duration of maxillomandibular fixation (MMF) with the novel IDS was 21 days (range 12-42 days). The average length of follow up was 1.6 years (range 3 months-11 years). All children had restored, functional occlusion at follow up with none requiring further orthodontic or dental intervention. Three children of the total cohort (13.0%) had prolonged hospitalization beyond 48 h for poor oral intake. Five children (21.7%) experienced minor long-term complications including persistent temporomandibular joint pain (n = 1, 4.3%), infection (n = 2, 8.7%), hypertrophic scar (n = 1, 4.3%) and exposure of hardware (n = 1, 4.3%). CONCLUSION: PMFs resulting in malocclusion are safely and effectively managed with operative repair utilizing a customizable IDS, with few observed short- and long-term complications.

The Effect of Monaurally Fitted Hearing Aid Use on the Evolution of Presbycusis.

OBJECTIVE: The effect of hearing aid use on the evolution of presbycusis has not been well described in the literature, with only a handful of publications addressing this topic. This paper aims to evaluate the long-term use of amplification and its effect on pure-tone thresholds and word recognition scores. METHOD: Monaurally fitted patients were followed with serial audiograms. Data was collected from hearing aid centers. Seventy-seven patients with presbycusis met the inclusion criteria and participated in the present study. The progression of hearing loss in both pure tone thresholds and word recognition scores were compared between the hearing aid ears (HA), and the non-hearing aid ears (NHA). Pure tone thresholds were analyzed by comparing the pure tone average at the initial and last audiograms. Word Recognition Scores (WRS) were analyzed using the model of Thornton and Raffin (1978), and by comparing the change in the absolute values of WRS from the initial to the last audiogram between the HA ear and the NHA ear. RESULTS: No significant difference in pure-tone thresholds between the HA ear and NHA ear was found at the last audiogram (P = .696), even after dividing the patients into groups based on the duration of amplification. Both methods of analysis of patients' WRS showed a statistically significant worsening in NHA (P < .05). CONCLUSION: The present study supports the previously defined auditory deprivation effect on non-fitted ears, which showed worsening of word recognition over time and no effect on pure tone average. It provides an additional argument for the counseling of patients with presbycusis considering amplification, and highlights the importance of bilateral amplification in preserving the residual hearing of hearing impaired patients.

Comparing two different techniques to repair pediatric anterior tympanic membrane perforations.

OBJECTIVE: Compare outcomes between a microscopic and endoscopic technique for anterior tympanic membrane (TM) perforation. METHODS: Results of microscopic overlay (MT) and endoscopic tympanoplasty (ET) for management of anterior TM perforations from a single surgeon. RESULTS: There were 28 patients in the MT group and 35 in the ET group. The mean age was 7.1 years and 10.9 years (p < 0.001) MT and ET groups respectively. There was no statistical differences in perforation location (p = 0.1), etiology (p = 0.52) or size (p = 0.1) between both groups. Mean operating time was 119.0 min and 131.0 min in the MT and ET groups respectively (p = 0.23). Follow up was 30.9 months and 9.0 months (p = 0.001) MT and ET respectively. The perforation was successfully closed in 29 patients at 6 weeks in the ET (82.9%) and 25 in the MT (89.3%), p = 0.47. Adjusting for age revealed no significant difference between groups. Long term follow up, resulted in 10 failures (28.6%) and 7 patients (25.0%) in the ET and MT groups respectively, p = 0.75. Adjusting for the follow-up period or age, there was no significant difference between groups. The change in ABG and PTA measures were not statistically different between groups. CONCLUSIONS: An anteriorly based ET is a novel technique for management of anterior TM perforations. Results from this pilot study indicate that this ET approach may be an appropriate alternative to MT for difficult to repair anterior perforations. A longer follow-up will be necessary to determine its role in these perforations.

HPV-related oropharyngeal cancer prevalence in a middle eastern population using E6/E7 PCR.

BACKGROUND: Given the paucity of data and widely variable rates that have been reported, the main objective of this study was to examine the prevalence of HPV-positivity in oropharyngeal squamous cell carcinoma (OPSCC) in Middle Eastern patients presenting to one of the region's largest tertiary care centers using polymerase chain reaction (PCR) amplification of the HPV E6/E7 oncogenes, a highly sensitive and specific method of detection. METHODS: Medical charts and archived pathological specimens were obtained for patients diagnosed with biopsy proven oropharyngeal cancer who presented to the American University of Beirut Medical Center between 1972 and 2017. DNA was extracted from paraffin-embedded specimens and tested for 30 high-risk and low-risk papilloma viruses using the PCR-based EUROarray HPV kit (EuroImmun). RESULTS: A total of 57 patients with oropharyngeal cancer were initially identified; only 34 met inclusion/exclusion criteria and were included in the present study. Most patients were males (73.5%) from Lebanon (79.4%). The most common primary tumor site was in the base of tongue (50%), followed by the tonsil (41.2%). The majority of patients (85.3%) tested positive for HPV DNA. CONCLUSION: The prevalence of HPV-positivity amongst Middle Eastern OPSCC patients, specifically those from Lebanon, may be far greater than previously thought. The Lebanese population and other neighboring Middle Eastern countries may require a more vigilant approach towards HPV detection and awareness. On an international level, further research is required to better elucidate non-classical mechanisms of HPV exposure and transmission.

Risk of post-operative hemorrhage after adenoidectomy and tonsillectomy: Value of the preoperative determination of partial thromboplastin time and prothrombin time.

INTRODUCTION: Tonsillectomy and adenoidectomy (T& A) are the most common pediatric surgical procedures performed world-wide. Bleeding remains the most common complication of these procedures with 1-5.7% prevalence. METHODS: We recruited 1269 patients who were scheduled for either tonsillectomy, adenoidectomy or both. All patients had preoperative CBC, PT, and aPTT ordered. According to the results, patients were labelled as either "abnormal group" or "normal group". RESULTS: 35 patients had abnormal lab results 18 of these patients were diagnosed with coagulation disorders on further laboratory testing.9 of these patients had no pertinent history of bleeding. Even though an association is noted between abnormal lab tests and preoperative history of risk of bleeding, the correlation did not have high sensitivity (28.6%). CONCLUSION: This study provides evidence that preoperative history can give some information on patients with abnormal coagulation profile but may underestimate the prevalence of such diseases. In addition, patients with abnormal coagulation profile have more risk of postoperative bleeding even after adequate medical treatment perioperative. Thus, identifying these patients will help the clinician in providing the best surgical management with the least morbidity and mortality.