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Transmembrane and tetratricopeptide repeat 4 (Tmtc4) is a deafness gene in mice. Tmtc4-KO mice have rapidly progressive postnatal hearing loss due to overactivation of the unfolded protein response (UPR); however, the cellular basis and human relevance of Tmtc4-associated hearing loss in the cochlea was not heretofore appreciated. We created a hair cell-specific conditional KO mouse that phenocopies the constitutive KO with postnatal onset deafness, demonstrating that Tmtc4 is a hair cell-specific deafness gene. Furthermore, we identified a human family in which Tmtc4 variants segregate with adult-onset progressive hearing loss. Lymphoblastoid cells derived from multiple affected and unaffected family members, as well as human embryonic kidney cells engineered to harbor each of the variants, demonstrated that the human Tmtc4 variants confer hypersensitivity of the UPR toward apoptosis. These findings provide evidence that TMTC4 is a deafness gene in humans and further implicate the UPR in progressive hearing loss.

Objectives: To use portable colorimetry to quantify color differences between facial skin and potential three head and neck microvascular free tissue transfer (MFTT) donor sites—radial forearm (RF), anterolateral thigh (ALT), and fibula (FF)—and compare these differences by pigmentation of the donor site skin and self‐identified race. Methods: In this cross‐sectional cohort study, healthy volunteers consented to handheld colorimeter measurements at the three potential MFTT donor sites (RF, ALT, FF) to quantify color match to the facial skin using the CIE color space (DeltaE). The comparison of ipsilateral to contralateral cheek served as control for measurements. Cross‐sectional measurements in healthy volunteers were then compared to measurements obtained in postoperative head and neck MFTT patients. Results: DeltaE measurements were obtained for 128 healthy controls and 24 postoperative patients (N = 152). With increasing lightness (decreased pigmentation) of the skin at the donor site, the color match significantly worsened (higher DeltaE) across all potential MFTT donor sites (all p < 0.05). DeltaE from healthy controls closely approximated postoperative color match measurements in patients who underwent cervicofacial MFTT (DeltaE RF: 5.3 vs. 6.0, p = 0.432; DeltaE ALT: 6.2 vs. 6.4, p = 0.822; DeltaE FF: 6.0 vs. 6.4, p = 0.806). Conclusion: Patients with decreased skin pigmentation who are undergoing head and neck MFTT may experience worse color discrepancy between cervicofacial skin and the transferred skin paddle than those with more pigmented skin. Portable colorimetry may identify patients who could benefit from interventions such as dermis‐resected free tissue reconstruction with skin grafting to improve postoperative appearance. Level of Evidence: 3 Laryngoscope, 134:3581–3586, 2024 [ABSTRACT FROM AUTHOR]

Objective: Examine the association between sociodemographic factors and Individualized Education Program (IEP) establishment. Design: Retrospective cohort study. Setting: Tertiary referral center. Methods: Participants included deaf or hard‐of‐hearing children who were eligible for an IEP with "deafness" or "hard of hearing" as a primary or secondary disability. Primary outcome measures were time intervals between initial referral for services and parental consent; parental consent to determination of eligibility; and initial referral to eligibility (the sum of the previous 2 intervals). Student's t tests and linear regression were used to examine the association between sociodemographic factors and the primary outcome variables. Results: Of the 88 participants, 51 (58%) were male, 45 (51%) were from underrepresented minority (URM) groups, 35 (40%) spoke a primary language other than English, and 53 (60%) utilized public insurance. IEP establishment was significantly delayed in participants who required an English‐language interpreter. Most of the delay occurred in the time between the initial referral and parental consent (mean: 115 vs 37 days, P =.02). There were also significant delays from the time of referral for services to eligibility in URM participants (mean: 159 vs 85 days, P =.04). Significant delays were also associated with Minority Status and Language within social vulnerability index percentile rankings. Conclusion: This study found that IEP establishment was delayed in both URM participants and those who required an English‐language interpreter. These results highlight the importance of clear communication between the school system and caregivers in the IEP establishment process, particularly with families who require an English‐language interpreter or identify as URM. [ABSTRACT FROM AUTHOR]

Background: Unruptured intracranial aneurysms (UIAs) have an estimated global prevalence of 2.8% in the adult population; however, UIA was identified among more than 10% of ischemic stroke patients. Many epidemiological studies and reviews have pointed to the presence of UIA among patients with ischemic stroke; yet, the extent of this association is not fully known. We performed a systematic review and meta-analysis to determine the prevalence of UIA in patients admitted to hospitals with ischemic stroke and transient ischemic attack (TIA) at both global and continental levels and evaluate factors associated with UIA in this population. Methods: We identified, in five databases, all studies describing UIA in ischemic stroke and TIA patients between January 1, 2000, and December 20, 2021. Included studies were of observational and experimental design. Results: Our search yielded 3581 articles of which 23 were included, with a total of 25,420 patients. The pooled prevalence of UIA was 5% (95% confidence interval [CI] = 4-6%) with stratified results showing 6% (95% CI = 4-9%), 6% (95% CI = 5-7%), and 4% (95% CI = 2-5%) in North America, Asia, and Europe, respectively. Significant risk factors were large vessel occlusion (odds ratios [OR] = 1.22, 95% CI = 1.01-1.47) and hypertension (OR = 1.45, 95% CI = 1.24-1.69), while protective factors were male sex (OR = 0.60, 95% CI = 0.53-0.68) and diabetes (OR = 0.82, 95% CI = 0.72-0.95). Conclusion: The prevalence of UIA is notably higher in ischemic stroke patients than the general population. Physicians should be aware of common risk factors in stroke and aneurysm formation for appropriate prevention. [ABSTRACT FROM AUTHOR]

Objectives: To describe the clinicopathologic presentation of buccal squamous cell carcinoma and identify risks factors for recurrence and overall survival., Methods: This is a retrospective case-control study of patients with oral cavity squamous cell carcinoma (OCSCC) treated at a single tertiary care center between 2010 and 2022. All patients with buccal subsite OCSCC treated during this time frame were included and paired with a randomly selected age and gender matched patient with non-buccal OCSCC. Relevant data was collected via chart review., Results: Seventy-seven patients with buccal SCC were matched with 77 non-buccal OCSCC controls. The median follow-up time was 27 months (IQR 14-61). Median age was 67 years (IQR 57-75) and 53% of the cohort was female. Twenty (26%) buccal SCC patients experienced a recurrence versus 19 (25%) in the controls. Age ≥65-years-old increased odds of all-cause mortality in the buccal SCC group, but not in the control group. Perineural invasion and positive margins increased odds of recurrence in the buccal group only. Overall survival and progression-free survival did not differ between the groups, despite a greater number of T2 buccal tumors and T1 non-buccal tumors., Conclusions: Buccal SCC presents at a higher T stage than other oral cavity SCC subsite and may exhibit variance in the pathologic risk factors that predict poor outcomes versus non-buccal OCSCC. Despite these relatively minor differences, however, oncologic outcomes between these groups were similar., (© 2024 Wiley Periodicals LLC.)