Maheer M. Masood

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review

The Multiple Congenital Anomalies‐Hypotonia‐Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2‐year‐old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome.

Predictors of Adverse Outcomes in Free Flap Reconstruction: A Single-Institution Experience

Objective Understanding the independent predictors of poor outcomes in free flap surgery is essential for patient selection. We aim to determine the independent predictors of major complications, flap survival, and extended hospital stays. Study Design Retrospective cohort study. Setting Tertiary medical center. Subjects and Methods We reviewed medical records from all vascularized tissue transfers in the head and neck between 2007 and 2014 at our institution. We recorded demographics, medical comorbidities, disease characteristics, flap characteristics, and intraoperative events. We defined outcomes as major complications in the 30-day postoperative period, flap death or partial flap survival, and a length of stay ≥14 days. We used bivariate and multivariate methods to test for associations. Results Of 170 free flap operations, 44% had major complications; 11% fully or partially failed; and 27% required an extended hospital stay. Independent predictors of major complications were age ≥60 years (odds ratio [OR], 3.7; P = .001), revision surgery (OR, 3.5; P = .004), and a prior neck dissection (OR, 3.5; P = .004). Independent predictors of flap failure were revision surgery (OR, 4.1, P = .01) and the use of a plate (OR, 3.7; P = .03). Revision surgery was independently associated with a longer stay (OR, 3.0; P = .01), and the use of a radial forearm flap was associated with a shorter stay (OR, 0.3, P = .047). Conclusion These results underscore that caution is warranted in revision flap surgery, patients with prior neck operations, and patients aged ≥60 years.

Oral tongue carcinoma among young patients: An analysis of risk factors and survival

INTRODUCTION The incidence of oral tongue squamous cell carcinoma (OTSCC) in younger adults has rapidly increased over the past two decades. While tobacco and alcohol use may be less likely to cause these tumors, it remains controversial whether differences also exist in their prognosis. Our aim is to examine the risk factors for cancer among young (<45 years old) OTSCC patients at our institution, and to compare their recurrence and survival with older patients in a matched cohort. MATERIALS AND METHODS All OTSCC patients seen at our institution between 2000 and 2015 were reviewed. Patients under 45 who with sufficient treatment information were matched 1:1 on race, T-stage, and N-stage with patients 45 and older. Three-year recurrence and survival were determined in stratified and adjusted Cox regression models. RESULTS Of 397 OTSCC patients were seen at our institution, 117 (29%) were less than 45 years old. Younger patients were significantly more likely to be female, (50% vs. 39%; p = 0.04) and to abstain from tobacco (51% vs. 39%; p < 0.01). Young patients in the matched cohort were significantly more likely to have a recurrence (HR 3.9 95% CI 1.4-10.5). There was no difference in overall survival. CONCLUSION Younger OTSCC patients in a matched cohort were more likely to recur within 3 years, although there was no difference in overall mortality. Differences in risk factors and recurrence between older and younger patients suggest that some cancer among younger patients may be distinct from traditional OTSCC.

Surgical simulation and applicant perception in otolaryngology residency interviews

The traditional resident applicant interview involves multiple oral interviews. The implementation of surgical simulations adds an additional dimension of assessment but can be perceived in a stressful way by applicants. The purpose of this project is to describe low‐fidelity simulations that were implemented for the 2016 to 2017 residency interviews and obtain applicant perception of these simulations.

Disparity between Preoperative and Pre-Excisional Intraoperative Parathyroid Hormone in Parathyroid Surgery

Introduction  Intraoperative parathyroid hormone (ioPTH) testing is a widely accepted standard for assessing the parathyroid gland function. A decline of preoperative parathyroid hormone (PTH) levels by more than 50% is one accepted measure of parathyroid surgery adequacy. However, there may be a variation between preoperative PTH levels obtained at a clinic visit and pre-excisional ioPTH. Objective  Our study explores the differences between preoperative PTH and pre-excisional ioPTH levels, and the potential impact this difference has on determining the adequacy of parathyroid surgery. Methods  A retrospective study that consisted of 33 patients that had undergone parathyroid resection between September 2009 and March 2016 at a tertiary academic center was performed. Each subjects preoperative PTH levels were obtained from clinic visits and pre-excisional ioPTH levels were recorded along with the time interval between the measurements. Results  There was a significant difference between the mean preoperative PTH and the pre-excisional ioPTH levels of 147 pg/mL (95% confidence interval [CI] 11.43 to 284.47; p  = 0.0396). The exclusion of four outliers revealed a further significant difference with a mean of 35.09 pg/mL (95% CI 20.27 to 49.92; p  < 0.0001). The average time interval between blood draws was 48 days + 32 days. A weak correlation between the change in PTH values and the time interval between preoperative and pre-excision blood draws was noted (r2 = 0.15). Conclusion  Our study reveals a significant difference between the preoperative PTH levels obtained at clinic visits and the pre-excisional intraoperative PTH levels. We recommend routine pre-excisional intraoperative PTH levels, despite evidence of elevated preoperative PTH levels, in order to more accurately assess the adequacy of surgical resection.

Chronic atypical first bite syndrome and primary squamous cell carcinoma of the parotid

First bite syndrome is a well‐recognized complication of parapharyngeal space surgery. There are no reported cases of protracted first bite syndrome and subsequent diagnosis of a primary squamous cell carcinoma (SCC) of the parotid.

Outpatient management and surgeon specialty for thyroglossal duct cyst excision: A retrospective analysis of 377 patients and 30-day outcomes in the American College of Surgeons NSQIP-P Database

Thyroglossal duct cysts (TGDC) excisions was traditionally an inpatient procedure, but there has been a recent trend towards outpatient surgery. Our aim is to use the NSQIP-P to examine overall thirty-day outcomes for TGDC excision, and to determine whether they are affected by admission status and surgeon specialty. We assessed the demographics, preoperative risk factors, and negative outcomes of admitted and same-day surgery TGDC patients, and TGDC patients of surgeons with different training. Outcomes were thirty-day rates for readmissions, reoperations, unplanned reintubations, major complications, and minor complications. Of 377 TGDC patients, 81% had outpatient surgery and 19% had inpatient surgery. Pediatric otolaryngologists performed 64% of the operations, followed by pediatric surgeons, general otolaryngologists, and general and plastic surgeons (23%, 12%, and 2% respectively). There was a 3% reoperation rate, no major complications, and a 3% wound infection rate. In multivariate analysis, neither admission status nor surgeon specialty were associated with negative 30-day outcomes. Premature birth (OR 6.5, p = 0.008) and male sex (OR 16, p = 0.008) were the only significant predictors. Outpatient pediatric TGDC surgery appears to have similar readmission, complication, and reoperation rates as inpatient surgery. Thirty-day outcomes do not vary by the surgeons training, although recurrence rates could not be evaluated with this database. This article is protected by copyright. All rights reserved.

Association of Standardized Tracheostomy Care Protocol Implementation and Reinforcement With the Prevention of Life-Threatening Respiratory Events

Importance Mucus plugging after tracheostomy is a preventable cause of respiratory distress. Implementation of standardized tracheostomy care guidelines may reduce the occurrence of fatal respiratory compromise. Objective To determine the effect of implementing and reinforcing a standardized tracheostomy care protocol on the occurrence of acute life-threatening respiratory events. Design, Setting, and Participants Retrospective cohort study of adult patients who received a tracheostomy between May 2014 and August 2016 at a tertiary care center. Main Outcomes and Measures Patient demographics, tracheostomy indication, rapid response for mucus plugging and other acute events, duration of hospital stay, and levels of care that the patients received were recorded through examination of clinical logs. Statistical analysis was conducted between patients before protocol implementation and patients after protocol implementation in terms of rapid-response use, and intragroup comparison of the mean length of stay in various hospital units was also analyzed. Results A total of 247 patients (89 women [36%]; mean [SD] age, 58.5 [12.3] years), 117 preprotocol and 130 postprotocol, met inclusion criteria. Of the 130 patients in the postprotocol cohort, 123 (93%) were on the new tracheostomy care protocol. Preprotocol rapid-response rate was 21 of 117 patients (17.9%) and postprotocol response rate was 12 of 130 patients (9.2%) for a difference of 8.7% (95% CI, 0.2%-18.0%). In terms of mucus plugging, preprotocol rate was 8 of 117 patients (6.8%) and the postprotocol rate was 1 of 130 patients (0.8%) for a difference of 6.0% (95% CI, 1.3%-12.2%). Intragroup difference of the mean time spent (days) in various care units between patients in the no rapid-response group vs rapid-response group demonstrated clinically meaningful longer stay for rapid responses in both preprotocol and postprotocol groups for the intensive care unit (preprotocol, 2.03; 95% CI, 1.03-3.03 vs postprotocol, 3.02; 95% CI, 1.49-4.45) and step down units (preprotocol, 1.40; 95% CI, 0.77-2.02 vs postprotocol, 2.11; 95% CI, 0.78 to 3.44). Conclusions and Relevance Implementation and reinforcement of a standardized tracheostomy care protocol was associated with a reduction in the occurrences of rapid-response calls for life-threatening mucus plugging and is recommended for clinical practice. In addition, length of stay in the intensive care unit and intermediate surgical care unit was increased in a clinically meaningful way for patients who experienced a rapid-response event.

Anatomic factors affecting the use of ultrasound to predict vocal fold motion: A pilot study

PURPOSE Ultrasonography is a well-established modality for visualization of head and neck anatomy. Using ultrasound to detect vocal fold mobility has been described before, but no study has evaluated factors affecting the exam reliability. The aim of the study is to determine anatomic factors influencing the reliability of ultrasound to detect vocal fold motion. Methods and materials Patients underwent ultrasound evaluation and flexible laryngoscopy to assess vocal fold motion from August 2015 to March 2016. Length, accuracy, and clarity of ultrasound examination were assessed, compared to flexible laryngoscopy. For patients with prior neck CT scan imaging, laryngeal anatomy was independently assessed by a blinded neuroradiologist. RESULTS A total of 23 patients, 21 with bilateral vocal fold motion and two with unilateral paralysis, were enrolled. Vocal folds were visible in 19 patients (82%). Eight patients (42%) had good/excellent view and 11 patients (58%) had fair/difficult view. The ultrasound correctly detected absent movement of the vocal fold in the two patients with unilateral paralysis. A total of 19 patients had CT scans, and a linear correlation (r2 = 0.65) was noted between the anterior thyroid cartilage angle measured on CT and the grade of view on ultrasound. CONCLUSION Ultrasound was able to detect vocal fold motion in 82% of randomly screened patients. Ease of detection of vocal fold motion correlated with the anterior thyroid angle. Further studies are warranted to investigate the reproducibility of our results and how this might impact use of ultrasound for detection of vocal fold motion in the operative setting.

Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1: Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1

Noonan syndrome (NS), the most common of the RASopathies, is a developmental disorder caused by heterozygous germline mutations in genes encoding proteins in the RAS‐MAPK signaling pathway. Noonan‐like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability. All NSLH1 reported cases to date have had an SHOC2 c.4A>G, p.Ser2Gly mutation; NSLH2 cases have been reported with a PPP1CB c.146G>C, p.Pro49Arg mutation, or c.166G>C, p.Ala56Pro mutation. True cleft palate does not appear to have been previously reported in individuals with NS or with NSLH. While some patients with NS have had growth hormone deficiency (GHD), other endocrine abnormalities are only rarely documented. We present a female patient with NSLH1 who was born with a posterior cleft palate, micrognathia, and mild hypotonia. Other findings in her childhood and young adulthood years include hearing loss, strabismus, and hypopituitarism with growth hormone, thyroid stimulating hormone (TSH), and gonadotropin deficiencies. The SHOC2 mutation may be responsible for this patients additional features of cleft palate and hypopituitarism.