Otolaryngologic sequelae of Ehlers Danlos Syndrome in pediatric patients.

OBJECTIVE: As outlined by the NIH, Ehlers Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders characterized by skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility, with no otolaryngological criteria for diagnosis. We aimed to compare otolaryngological disorders between children with EDS and those not affected by EDS. METHODS: A retrospective chart review was conducted using the US collaborative network within TriNetX. The EDS group was defined by ICD-10 code G47.33, while the non-EDS group excluded any patients with an EDS diagnosis. Cohorts were matched by age, sex, and race using propensity score matching. Pathologies analyzed included hearing loss (ICD-10H90, H91), otitis media (ICD-10H66, H65), allergic rhinitis, acute tonsillitis (ICD-10 J03), sinusitis (ICD-10 J32, J01), and obstructive sleep apnea (OSA) (ICD-10 G47.33). Chi-square and relative risk within a 95 % confidence interval were calculated. RESULTS: Propensity score matching yielded 6440 patients (male: N = 2,523, 39.2 %; female: N = 3,893, 60.5 %; unknown: N = 24, 0.37 %) with a mean age of 9.28 years (SD = 4.38). Children with EDS were 2.04 times more likely to be diagnosed with hearing loss, occurring in 286 (4.4 %) EDS children versus 140 (2.1 %) controls (P < 0.001). Children with EDS were 1.6 times more likely to be diagnosed with allergic rhinitis, occurring in 436 (6.8 %) EDS children versus 274 (4.2 %) controls (P < 0.001). Children with EDS were also 1.52 times (EDS: N = 350, 5.4 %; control: N = 231, 3.6 %) and 4.24 times (EDS: N = 335, 5.2 %; control: N = 79, 1.2 %) more likely to develop sinusitis and be diagnosed with OSA, respectively, compared to children without EDS (P < 0.001). However, children with EDS were only 0.71 times as likely to develop acute tonsillitis, with 101 (1.6 %) of EDS children compared to 142 (2.2 %) of control children being diagnosed (P = 0.009). No statistical difference was found in risk of developing otitis media. CONCLUSIONS: Children with EDS are at higher risk of developing hearing loss, allergic rhinitis, acute sinusitis, and OSA, possibly due to underlying immune dysfunction. Pediatric otolaryngologists should be vigilant about these otolaryngologic sequela in EDS patients.

Post-tonsillectomy bleeding rate decreases with limitation in maximum post-operative ibuprofen dosage: A quality improvement study.

OBJECTIVE: The objective of this study is to investigate the effect of a reduction in the prescribed post-operative ibuprofen dosage on frequency of post-tonsillectomy bleeding. METHODS: A quality improvement study was conducted at a single tertiary care pediatric hospital with patients weighing >40 kg undergoing tonsillectomy. The intervention was limiting the post-operative ibuprofen dosage to a maximum of 400 mg per dose. Data was collected on all patients returning to the hospital with bleeding after tonsillectomy. The primary outcome was the rate of post-tonsillectomy bleeding. Statistical analysis was conducted using nonparametric comparisons and a run chart. RESULTS: A total of 199 tonsillectomy patients >40 kg were included in the study. There were 119 (59.8 %) females and 80 (40.2 %) males total. The pre-intervention group had a total of 56 patients while the post-intervention group had a total of 143 patients. There was no statistical difference in age, weight, or sex between the pre- and post-intervention groups (p > .05). The post-tonsillectomy hemorrhage rate was 11/56 (19.6 %) before the intervention, and 11/143 (7.7 %) after the intervention (p = .016). Children who experienced a bleeding event were significantly older (mean 15.9 years, 95 % CI 14.5-17.3) than those who did not (13.5 years, 95 % CI 12.9-14.1; p = .011). The run chart revealed that the intervention resulted in a nonrandom decrease in rate of post-tonsillectomy bleeding. CONCLUSIONS: Post-tonsillectomy bleeding rate decreased with a ceiling post-operative ibuprofen dose of 400 mg/dose in this quality improvement study. Further research is warranted.

Americans with disabilities act cases initiated by individuals with cochlear implants in the United States.

OBJECTIVE: The Americans with Disabilities Act (ADA) is a federal law that forbids discrimination against individuals with certain disabilities, including hearing impairment. This study aimed to determine the nature of ADA discrimination complaints in individuals with cochlear implants. METHODS: A search for court decisions containing the terms "cochlear implant" and ("Americans with Disabilities Act" or "ADA") from 1985 to 2021 was performed with the Westlaw Campus Research legal database. Cases were included and analyzed if at least one of the plaintiffs had a cochlear implant and was claiming discrimination related to their hearing impairment based on the ADA. RESULTS: 24 cases initiated between 2003 and 2021 in 19 US states were identified based on inclusion criteria. The highest number of cases occurred in California (N = 4, 16.7 %). The alleged discrimination most frequently took place at a K-12 school (N = 9, 37.5 %), workplace (N = 7, 29.2 %), or during an encounter with police/correctional officers (N = 4, 16.7 %). Fourteen (58.3 %) cases involved complaints under Title II (Public Services) of the ADA. Seven (29.2 %) involved Title I (Employment) and 4 (16.7 %) involved Title III (Public Accommodations). Summary judgment was given in favor of the defendant or the case was dismissed entirely in 16 (66.7 %) of the cases. CONCLUSION: Patients with cochlear implants are still at risk of discrimination because of their disability. Cochlear implantees, school employees, workplace supervisors, and law enforcement personnel can benefit from ADA education.

Neonatal Temporomandibular Joint Dislocation: A Case Report and Literature Review.

Neonatal temporomandibular joint (TMJ) dislocation is rare. The purpose of this study is to describe a case of neonatal TMJ dysfunction and to review the literature on this topic. A six-day-old female was seen with both parents for evaluation of a dislocating jaw. Her mother had been breastfeeding successfully but noticed that there was a noticeable click every time the baby swallowed. Her jaw came out and down as she fed and then returned to the normal position. Over the last few days, her mother felt that only one side was involved as her jaw movement seemed asymmetrical. Her primary care physician had witnessed the click during the sucking reflex. The patient had a normal appearance and was otherwise healthy. The pediatric otolaryngologist observed deviation of the jaw toward the left with a palpable click upon mouth opening and spontaneous reduction with mouth closing. The symptoms resolved over the following month. The literature review showed few cases of TMJ dislocation in infants, most of which described fixed dislocation related to vomiting or crying. Due to the development of the TMJ in infancy characterized by joint laxity and a flat mandibular fossa, malfunctioning of the hinge joint mechanism could be expected to be more common early in life.

Double Thyroglossal Duct Cyst: A Case Report.

Thyroglossal duct cysts are one of the most common cervical congenital anomalies. They occur along the thyroid migration tract, which extends from the base of the tongue through the midline of the neck to the level of the cricoid cartilage. Thyroglossal duct cysts present as a midline neck mass and are closely associated with the hyoid bone. Here, we describe a case where two cystic structures were found just inferior to the thyroid gland and inferior to the hyoid bone, suggesting a double thyroglossal duct cyst. It is important to diagnose and surgically manage thyroglossal duct cysts as they are associated with complications, such as infection and malignancy.

Keratocystic Odontogenic Tumor Associated with Impacted Molar in the Maxillary Sinus Causing Osteomyelitis.

Keratocystic odontogenic tumors are cystic masses that arise from cells involved in tooth development. These lesions can be very locally aggressive and have a remarkable rate of recurrence. This combination of traits necessitates aggressive treatment and monitoring. They most commonly affect the mandible; an uncommon presentation is to involve the maxillary sinus. Here we present a case of a keratocystic odontogenic tumor that developed in association with an impacted third molar in the maxillary sinus that subsequently became infected and evolved to maxillary osteomyelitis.

Extramedullary Myeloid Sarcoma with Symptoms of Acute Pancreatitis Mimicking Pancreatic Carcinoma.

Extramedullary myeloid sarcomas are extramedullary tumors of immature myeloid cells, often associated with acute myeloid leukemia (AML), chronic myeloid leukemia (CML), or other myeloproliferative diseases. They are usually found in connective/soft tissues, skin, breast and gastrointestinal system. Pancreas is an uncommon site to be involved. We present a case of pancreatic myeloid sarcoma presenting with symptoms of acute pancreatitis including epigastric pain associated with nausea and vomiting, with imaging findings (abdominal CT) suggestive of pancreatic carcinoma, both presenting as hypoattenuating mass. It is important to consider myeloid sarcoma as a differential for pancreatic mass, especially given the history of AML as in our patient, which would lead to timely diagnosis and initiation of chemotherapy.

CRL4 regulates recombination and synaptonemal complex aggregation in the Caenorhabditis elegans germline.

To maintain the integrity of the genome, meiotic DNA double strand breaks (DSBs) need to form by the meiosis-specific nuclease Spo11 and be repaired by homologous recombination. One class of products formed by recombination are crossovers, which are required for proper chromosome segregation in the first meiotic division. The synaptonemal complex (SC) is a protein structure that connects homologous chromosomes during meiotic prophase I. The proper assembly of the SC is important for recombination, crossover formation, and the subsequent chromosome segregation. Here we identify the components of Cullin RING E3 ubiquitin ligase 4 (CRL4) that play a role in SC assembly in Caenorhabditis elegans. Mutants of the CRL4 complex (cul-4, ddb-1, and gad-1) show defects in SC assembly manifested in the formation of polycomplexes (PCs), impaired progression of meiotic recombination, and reduction in crossover numbers. PCs that are formed in cul-4 mutants lack the mobile properties of wild type SC, but are likely not a direct target of ubiquitination. In C. elegans, SC assembly does not require recombination and there is no evidence that PC formation is regulated by recombination as well. However, in one cul-4 mutant PC formation is dependent upon early meiotic recombination, indicating that proper assembly of the SC can be diminished by recombination in some scenarios. Lastly, our studies suggest that CUL-4 deregulation leads to transposition of the Tc3 transposable element, and defects in formation of SPO-11-mediated DSBs. Our studies highlight previously unknown functions of CRL4 in C. elegans meiosis and show that CUL-4 likely plays multiple roles in meiosis that are essential for maintaining genome integrity.