While eosinophilic esophagitis (EoE) is traditionally recognized as a male-predominant disease, its distinct presentation, underlying biology, and management in female patients warrant closer examination. Differing gene profiles between sexes and sex-specific genetic loci associated with disease development have been identified. Estrogen has been shown to have a protective role in EoE development; this may factor into the observed male-predominance. Women tend to have less dysphagia and are more likely to experience the inflammatory symptoms of abdominal pain, nausea, reflux, heartburn, chest pain, and epigastric pain. Females are also less likely to have strictures than males. Data on endoscopic and histologic findings between females and males is variable, with data suggesting that females tend to have less severe disease activity but similar or higher levels of symptoms and quality of life impairment. When it comes to pregnancy, symptoms can improve during pregnancy but may recur after delivery. Data suggests that PPIs, swallowed budesonide, and dupilumab may be safely continued during pregnancy. Elimination diets should be approached cautiously due to the potential for adverse outcomes associated with food restriction but could be considered under the supervision of a knowledgeable dietician. Further research is needed to better understand and treat EoE in women.

Dysphagia caused by dysfunction is commonly managed by thickened beverages, yet fluids with similar viscosity may differ markedly in terms of swallowing safety. This study investigates how thickening mechanisms such as viscosity level, elasticity, and shear-thinning affect bolus cohesivity and aspiration risk. Model fluids with identical shear viscosity at 50 s[-1] of 0.15 Pa s and IDDSI level 2 were formulated: Newtonian (maltodextrin), Boger (maltodextrin + xanthan, elastic), and shear-thinning (xanthan). Their flow behavior was evaluated in a swallowing simulator ("The Gothenburg Throat") replicating healthy and impaired conditions, combined with shear and extensional rheometry. Despite identical shear viscosity, marked differences in flow were observed. Newtonian fluids showed insufficient cohesivity and allowed aspiration under impaired conditions, whereas both elastic (Boger) and shear-thinning fluids maintained cohesive boluses and prevented airway entry. Elastic and extensional properties enhance bolus integrity, reducing droplet breakup. Analysis using dimensionless numbers indicated that neither viscosity nor inertia alone predicts performance; instead, a combined "bolus cohesivity number" incorporating viscous, elastic, inertial, and surface forces correlated with aspiration outcomes. These results demonstrate that the mechanism of thickening is critical: elasticity and shear-thinning improve swallowing safety beyond viscosity alone, which has strong implications for the design and selection of dysphagia thickeners.

Painful refractory mucoceles erupting along the soft palate are uncommon and management pathways are not well established. In general, oral mucoceles represent common non-neoplastic, non-infectious lesions of the minor/accessory salivary glands and are categorized histopathologically as mucus extravasation phenomena or mucus-retention cysts. We report a rare 3-year treatment-resistant course of painful soft palate mucocele clusters in an adult male causing significant impairment in quality of life, affecting speaking, swallowing, and psychological well-being. The case began as two isolated soft palate mucoceles bilateral to the midline. Excision with biopsy and suture closure was performed and resulted in severe satellite lesion development around the operative fields. Histopathology diagnosed salivary gland mucocele, showing extravasated mucin with neutrophils, macrophages, chronically inflamed granulation tissue, and no dysplasia or malignancy. Corrective medical attempts via corticosteroid therapy were followed by black hairy tongue and lingual candidiasis. Revision surgery with electrocautery ablation (no sutures) produced marked yet incomplete lesion reduction. After 3 years of approximately daily lesion eruption, complete resolution for 9 months to date was achieved with off-label use of intralesional and submucosal sclerosant injections combined with electrocauterization and followed by red/near-infrared light therapy (photobiomodulation or PBM). This case highlights an uncommon presentation of chronic painful salivary gland mucoceles on the soft palate with post-surgical onset of satellite lesions. Relatively non-invasive, corticosteroid-free therapies incorporating sclerotherapy with electrocautery and adjunctive PBM could be considered in related cases. To our knowledge, this multimodal approach to a rare presentation has not been previously reported.

BackgroundX-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM) are rare neuromuscular disorders characterized by severe weakness and respiratory impairment and have recently been the focus of therapeutic development. Robust baseline data are essential to understand disease trajectories and enable trial readiness. We present baseline clinical, functional, and biomarker findings from the terminated Unite-CNM trial (NCT04033159), a basket study of the antisense oligonucleotide DYN101, designed to modulate DNM2 expression in adolescents and adults with XLMTM or ADCNM.MethodsScreening and baseline evaluations included medical history, patient-reported outcomes, quantitative muscle strength and motor function, respiratory testing, muscle ultrasound and histology, and biomarker analyses (DNM2 protein, creatinine, creatine kinase, cystatin C, myostatin, and microRNAs) in plasma and muscle.ResultsTwenty-six patients were screened (15 DNM2, 11 MTM1); 14 entered the study. Patient-reported measures highlighted swallowing challenges and variable personal goals. Baseline respiratory impairment was variable in DNM2 and female MTM1 patients but consistently reduced in males with MTM1 (FVC% and FEV1% stable over follow-up to 78 weeks). MFM32 scores were similar across genotypes and sexes, while Myogrip strength was reduced versus age norms yet stable longitudinally. Muscle pathology was comparable across groups. Biomarker analyses showed altered DNM2 protein, reduced myostatin, and specific abnormalities in creatinine, creatine kinase, cystatin C, and microRNAs.ConclusionThis dataset provides valuable phenotypic, functional, and biomarker characterization of adult XLMTM and ADCNM, emphasizes the importance of baseline data for ultrarare disease trials, and highlights the need for protocol flexibility in response to safety signals and disruptions (e.g. COVID-19).

BackgroundPost-stroke dysphagia (PSD) is associated with swallowing muscle atrophy and impaired tongue performance.ObjectivesThis study aimed to compare oral muscle mass, muscle elasticity, and tongue performance in stroke patients with different swallowing function levels.MethodsIn this cross-sectional pilot study, 41 stroke patients from Kaohsiung Chang Gung Memorial Hospital, Taiwan, were stratified into three groups based on the Functional Oral Intake Scale (FOIS): severe dysphagia (levels 1-3), mild-to-moderate dysphagia (levels 4-6), and no dysphagia (level 7). Tongue and bilateral masseter muscle thickness and elasticity, expressed as shear wave velocity (SWV), were assessed using ultrasonography and sonoelastography. Tongue strength and endurance were evaluated using Iowa Oral Performance Instrument (IOPI). Group differences were analyzed using the Kruskal-Wallis test followed by Mann-Whitney U post hoc comparisons. Associations between FOIS scores and IOPI or sonographic measurements were evaluated using Spearman's rank correlation.ResultsTwenty-seven men and fourteen women were included. Unaffected-side masseter muscle thickness differed significantly among groups (p < 0.05), increasing with better swallowing function. Tongue SWV was highest in the severe dysphagia group (median 1.98 [IQR 0.83] m/s), with significant differences among groups (p < 0.05). Higher FOIS levels were associated with greater tongue strength and endurance, although endurance did not differ between the mild-to-moderate dysphagia and non-dysphagic groups.ConclusionsOral muscle mass measurements alone may not adequately reflect PSD severity. Integrating sonoelastography and IOPI assessments identifies increased tongue stiffness and reduced tongue performance in severe PSD, supporting severity-specific rehabilitation strategies.

Swallowing is regulated by cortical networks and the caudal brainstem. Damage to central pattern generators, commonly seen after stroke, can result in severe dysphagia with limited treatment options. Pharyngeal electrical stimulation (PES) presents a promising therapy as it may enhance sensory input to impaired brainstem networks by targeting pharyngeal sensory afferents, the primary site of dysfunction in brainstem infarction. This single-case study reports on a 78-year-old woman with a confirmed left-sided infarction in the dorsolateral medulla oblongata, resulting in severe dysphagia. PES was delivered 2 days after the onset of symptoms using the Phagenyx® system via a nasogastric catheter. The stimulation was applied at 5 Hz for 10 min daily over 4 days. The initial fiberoptic endoscopic evaluation of swallowing (FEES) showed severe dysphagia with saliva aspiration. Assessment revealed a Penetration-Aspiration-Scale (PAS) score of 8 for half a tablespoon of ice chips, alongside a score of 3 on Murray's Secretion Scale (MSS) and 7 on the New Zealand Secretion Scale (NZSS). No other consistencies were tested. After 4 consecutive days of stimulation followed by a 48-h period without stimulation, follow-up FEES revealed normal swallowing frequency and adequate saliva control, with a score of 0 on MSS. The patient safely swallowed all tested consistencies, scoring 1 on the PAS. On the NZSS, both fluids and solids scored 0. With pudding, residue in the pyriform fossae resulted in a score of 1. PES appears to be a targeted and effective approach for the treatment of severe dysphagia after brainstem stroke.

Swallowing rehabilitative therapies are widely used to manage impairments in head and neck cancer (HNC), but their pooled effects outcomes have not been established. This study aimed to evaluate the effects of swallowing rehabilitative therapies on functional outcomes and quality of life (QoL) in HNC patients. We searched six databases from inception through December 2024, with no restrictions on date, region, or language. Only randomized controlled trials (RCTs) were eligible. Functional outcomes comprised swallowing function, aspiration/penetration, oral intake, mouth opening, and pain, whereas QoL was assessed overall and across its domains. Pooled effect sizes were estimated using Hedges' g with 95% confidence intervals (CIs) under a random-effects model, where values of approximately 0.20, 0.50, and 0.80 denoted small, moderate, and large effects, respectively. Heterogeneity, publication bias, and moderator analyses were performed. Thirty-one RCTs involving 2,038 HNC patients (men: 68.11%) were included. The therapies exerted moderate to small effects on swallowing function (g: 0.69; 95% CI: 0.30, 1.08), aspiration/penetration (g: -0.21; -0.40, -0.02), oral intake (g: 0.39; 0.07 to 0.71), and mouth opening (g: 0.44; 0.30, 0.58), a large effect on pain (g: -0.93; -1.48, -0.38), and a moderate to small effect on overall QoL (g: 0.43; 0.15, 0.72). Moderator analyses among subgroup comparisons only oral intake showed significantly larger effects with longer (>8 weeks; p = 0.038) and more frequent (>70 sessions; p = 0.025) programs. HNC patients may benefit from tailored, sustained, and frequent swallowing rehabilitation as part of long-term supportive care.

Epignathus, a teratoma arising from the palate or pharynx, is extremely rare and palatal fetus-in-fetu represents an even rarer anomaly. We report a prenatally diagnosed palatal fetus-in-fetu successfully managed with ex utero intrapartum treatment (EXIT). A 4 cm oral mass detected at 23 weeks caused polyhydramnios and gastric shrinkage, suggesting impaired swallowing and potential airway obstruction. Multidisciplinary evaluation determined the need for EXIT to secure the airway under placental circulation. At 34+5 weeks of gestation, caesarean delivery with EXIT was performed; a 14 cm tumour was delivered and tracheostomy followed by staged resection was undertaken. Histopathology revealed multiple differentiated tissues-including nerve, gastrointestinal tract, adrenal gland, skin, bone and teeth-meeting Spencer's criteria for fetus-in-fetu. The infant recovered well and was discharged 96 days postnatally. EXIT proved invaluable for airway management in high-risk epignathus, and fetus-in-fetu differs from teratoma by its lower malignant potential, emphasising individualised prenatal planning and team collaboration.