Citations

Objective Congenital facial weakness (CFW) disorders are a heterogeneous group of rare conditions, that present at birth, with reduced facial movement, and mask-like facies. This study utilized a multimodality approach to examine the craniofacial and intraoral phenotypes among CFW disorders: Moebius syndrome (MBS), Hereditary Congenital Facial Palsy (HCFP), β-tubulin isotype 3 syndrome (CFEOM3A-TUBB3), Carey-Fineman-Ziter syndrome (CFZS), and a group of rarer disorders (Other). Design Prospective cohort study. Setting: Dental clinic. Participants: Sixty individuals (sex ratio 1:1, mean age 26.2 ± 17.5 years) with a diagnosis of CFW. Interventions: Deep clinical craniofacial and dental phenotyping, three-dimensional facial surface and cone-beam computed tomography scans, and cephalometric and geometric morphometric analyses. Results CFEOM3A-TUBB3, MBS, and CFZS groups had the highest prevalence of craniofacial anomalies; HCFP individuals were least affected. CFEOM3A-TUBB3 had a higher prevalence of short lower face (75%), poor oral hygiene (100%)/decay (75%), and Class II malocclusion (87.5%). Moebius syndrome was associated with lagophthalmos (90.9%), tongue fissures (72.4%), tight/small oral orifice (51.7%), and tongue fasciculations (50%). Carey-Fineman-Ziter syndrome had oblong facial shape (100%), downward lip commissures (100%), and abnormal hearing (60%). Moderate-severe decay/gingivitis correlated with restricted oral orifice, common among patients with facial animation/sling surgery. Morphologically, the CFW cohort had a relatively small craniofacial centroid size, anthropometric measurements, and distinct craniofacial shapes for each subtype. Conclusions Congenital facial weakness can result in abnormal craniofacial development in addition to the loss of facial movement. Multimodality phenotypic characterization of CFW disorders elucidated key clinical findings and distinct craniofacial shape segregation among the different groups.

The head and neck region is a marvel of anatomic complexity and it encompasses a broad array of subsites, each with its own architectural nuances. This histologic richness begets a commensurate diversity of disease. Advances in our understanding of the genetic and epigenetic alterations that underlie many of these tumors have not only refined their classification, but also reshaped our approaches to diagnosis, prognosis, and therapy. This Fascicle reflects these scientific and diagnostic evolutions. Departing from prior editions this volume is organized by anatomic subsite. Each chapter delves into the neoplastic conditions and key differential diagnoses germane to a specific location. This anatomic framework is intended to provide readers with a more practical and intuitive means of navigating the field. This Fascicle serves as a useful companion—equal parts atlas, reference, and diagnostic confidant—for pathologists encountering the intricate, fascinating, and occasionally exasperating world of head and neck pathology.

ABSTRACT Major depressive disorder (MDD) is a substantial public health challenge. Pharmacogenomics (PGx), which identifies genetic variations that predict drug treatment outcomes, may have utility for clinical practice, but adequate representation of all populations is needed. As precision medicine in psychiatry moves towards the use of Artificial Intelligence (AI) and Machine Learning (ML) to predict treatment outcomes using PGx data, representation of diverse populations will be especially important in order to mitigate algorithmic bias and achieve equitable and generalizable findings. This work sought to quantify population diversity in pharmacogenomic studies of MDD through a systematic review. Data from 390 MDD antidepressant PGx studies were extracted from 5739 articles screened. Studies summarized were predominantly conducted in Europe, East Asia, and North America. Across all global studies, the study population comprised 57.3% White, 36.4% Asian, 1.7% Black, 3.5% Hispanic/Latino, and 0.1% Native American or Indigenous participants. Only sixty‐three (16.2%) studies included Black or Latino/Hispanic patients. Additionally, Black, Asian, Hispanic/Latino, and American Indian/Alaska Native populations were statistically underrepresented in U.S. study populations when compared to national census data, while Asian and Black populations were underrepresented in the United Kingdom. The overrepresentation of participants from a limited number of countries combined with the underrepresentation of Black and Hispanic/Latino populations could impact the extent to which pharmacogenomic testing and associated AI/ML‐based PGx tools could individualize antidepressant medication regimens for treating MDD.

Abstract Myxofibrosarcoma (MFS) is a rare, aggressive soft tissue sarcoma with high recurrence rates. Conventional treatment involves wide surgical resection and radiotherapy, but the infiltrative nature of MFS often complicates complete resection. This case highlights an 81-year-old patient with recurrent MFS in the left forearm, initially treated with surgery and radiation therapy. Due to surgical limitations and desire for a minimally invasive approach after recurrence, cryoablation was performed. The patient underwent the procedure successfully, and postoperative imaging indicated effective ablation. This case demonstrates cryoablation as a feasible, minimally invasive alternative for managing recurrent MFS, particularly in anatomically challenging cases.

Abstract Like all diagnoses and comorbidities, patients with hip pain should be managed with individualized treatment plans. Patients with fibromyalgia undergoing hip arthroscopy are no different. Even if their absolute scores remain lower than those without fibromyalgia, these patients can achieve clinically meaningful improvements in patient‐reported outcomes after treatment of femoroacetabular impingement. As orthopaedic providers, we should be aware of potential bias against patients with chronic musculoskeletal pain and critically evaluate the literature that supports clinically relevant improvement after surgical intervention. Fibromyalgia should not be viewed as a condition that excludes or increases the threshold for hip arthroscopy but rather as a factor requiring nuanced, multidisciplinary perioperative care and realistic goal‐setting.