Correlation between dysphonia and dysphagia evolution in amyotrophic lateral sclerosis patients.

MATERIALS AND METHODS: Between March 2017 and February 2018, 27 newly diagnoses patients (about 2 months) were examined in the ENT Clinic of our University Hospital. The bulbar-onset of ALS was diagnosed by neurologists. RESULTS: According to the endoscopic and clinical results, patients were classified in 4 classes of dysphagia. Laryngology and speech pathology assessment with spectroacuostic analysis of speech using Praat software are fundamental for the proper evaluation of dysphonia of these patients. This study was the first attempt to find a vocal indicator of advancement in swallowing dysfunction in the patient population of ALS. Preliminary findings indicate that the reduction in the maximum fundamental frequency is associated with advancement of dysphagia. CONCLUSIONS: Monitoring the vocal parameters could be useful in order to give an early rehabilitation aid to these patients improving their quality of life and reducing aspiration risks.

Blastic plasmacytoid dendritic cell neoplasm: a rare case of gingival lesion with leukaemic presentation.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare haematological malignancy with an aggressive clinical course. It has been recognised as a distinct entity in the WHO 2008 classification of haematolymphoid neoplasm. This disease usually presents with cutaneous involvement as the first manifestation, with subsequent or simultaneous spread to bone marrow and peripheral blood with leukaemic dissemination. Gingival lesion as the first manifestation, in the absence of a cutaneous lesion, is an uncommon presentation of this rare disease. We report a case of an elderly woman, aged 84 years, who presented with a lump on the mandibular gingiva and ipsilateral otalgia without any cutaneous lesion and associated with an highly aggressive and rapid leukaemia. This case is an addition to the handful of those cases of BPDCN which presents without cutaneous involvement, but it is exceedingly rare for clinical features that make it a unique case in the literature.

Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study.

OBJECTIVES: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and dysphagia in patients with RS. METHODS: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. A total of 56 patients with RS were examined and grouped according to the severity of dysphagia (absent, mild, moderate or severe) and malocclusion (<2 mm, 2-3 mm, 3-4 mm or >4 mm). RESULTS: All of the patients were female and the mean age was 11.3 years. Eight (14.3%) patients had mild, 18 (32.1%) had moderate and 30 (53.6%) had severe dysphagia. Four (7.1%) patients had <2 mm occlusion, 10 (17.9%) had 2-3 mm occlusion, 26 (46.4%) had 3-4 mm occlusion and 16 (28.6%) had >4 mm occlusion. Mild dysphagia was observed in 100% and 40% of patients with <2 and 2-3 mm malocclusion, respectively, while moderate dysphagia was present in 60% and 38.5% of patients with 2-3 and 3-4 mm malocclusion, respectively. Severe dysphagia was observed in 28.6% and 87.5% of patients with 3-4 and >4 mm malocclusion, respectively. There was a significant correlation between dysphagia and malocclusion severity (P <0.001). CONCLUSION: A higher degree of malocclusion was associated with more severe dysphagia among a cohort of patients with RS.

HMGB1 in the Pathogenesis of Nasal Inflammatory Diseases and its Inhibition as New Therapeutic Approach: A Review from the Literature.

Introduction This study is a systematic review on recent developments about the importance of HMGB1 protein in the pathogenesis of rhino-sinusal inflammatory diseases. We also report data on the use of 18-ß-glycyrrhetic acid (GA), which has been shown able to inhibit the pro-inflammatory activities of HMGB1, in young patients affected by allergic rhinitis and complaining of nasal obstruction as main symptom. Objectives The objective of this study was to review the literature to demonstrate the importance of HMGB1 in the pathogenesis of nasal inflammatory disorders and understand whether the inhibition of this protein may be an efficacious and innovative therapeutic strategy for patients with rhino-sinusal inflammation. Data Synthesis Authors searched for pertinent articles indexed in PubMed, Scopus, and other health journals between 2004 and 2015. In total, the authors gathered 258 articles: 219 articles through Pubmed and 39 articles from other search engines. The search terms used were as follows: HMGB1 AND "respiratory epithelium," "airway inflammation," "rhinitis," "allergic rhinitis," "rhinosinusitis," "nasal polyposis," "glycyrrhetic acid," "children." Conclusions Patients with severe symptoms have the highest serum levels and the highest extracellular expression of HMGB1. GA inhibits HMGB1 chemotactic and mitogenic function by a scavenger mechanism on extracellular HMGB1 accumulation stimulated by lipopolysaccharides in vitro. Treatment of allergic rhinitis with GA is not associated with local or systemic side effects in children and adults.

HMGB1 in the Pathogenesis of Nasal Inflammatory Diseases and its Inhibition as New Therapeutic Approach: A Review from the Literature

Abstract Introduction This study is a systematic review on recent developments about the importance of HMGB1 protein in the pathogenesis of rhino-sinusal inflammatory diseases. We also report data on the use of 18-β-glycyrrhetic acid (GA), which has been shown able to inhibit the pro-inflammatory activities of HMGB1, in young patients affected by allergic rhinitis and complaining of nasal obstruction as main symptom. Objectives The objective of this study was to review the literature to demonstrate the importance of HMGB1 in the pathogenesis of nasal inflammatory disorders and understand whether the inhibition of this protein may be an efficacious and innovative therapeutic strategy for patients with rhino-sinusal inflammation. Data Synthesis Authors searched for pertinent articles indexed in PubMed, Scopus, and other health journals between 2004 and 2015. In total, the authors gathered 258 articles: 219 articles through Pubmed and 39 articles from other search engines. The search terms used were as follows: HMGB1 AND "respiratory epithelium," "airway inflammation," "rhinitis," "allergic rhinitis," "rhinosinusitis," "nasal polyposis," "glycyrrhetic acid," "children." Conclusions Patients with severe symptoms have the highest serum levels and the highest extracellular expression of HMGB1. GA inhibits HMGB1 chemotactic and mitogenic function by a scavenger mechanism on extracellular HMGB1 accumulation stimulated by lipopolysaccharides in vitro. Treatment of allergic rhinitis with GA is not associated with local or systemic side effects in children and adults.

A case of bisphosphonate-related osteonecrosis of the jaw with a particularly unfavourable course: a case report.

Bisphosphonates are drugs used to treat osteoclast-mediated bone resorption, including osteoporosis, Paget disease, multiple myeloma, cancer-related osteolysis, and malignant hypercalcemia. The use of these drugs has increased in recent years as have their complications, especially bisphosphonate-related osteonecrosis of the jaw (BRONJ), which more frequently affects the mandible. Here we report a case of BRONJ with a particularly unfavorable course due to cervical inflammation that developed into necrotizing fasciitis, followed by multiorgan involvement leading to septic shock and death.

Dysphagia in Rett Syndrome: A Descriptive Study.

OBJECTIVES: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. METHODS: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. RESULTS: Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. CONCLUSIONS: Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

High-mobility group box protein 1 expression in inflammatory diseases of the middle ear.

High-mobility group box 1 (HMGB1) is a nuclear non-histone protein, playing a critical role as a mediator between innate and acquired immunity; when released extracellularly, it coordinates the cellular stress response (under necrosis, bacterial lipopolysaccharide stimulation) and acts as an inflammatory marker and cytokine. The aim of the study was to demonstrate whether HMGB1 is over-expressed in chronic middle-ear pathologies and whether the entity of expression and the localization are correlated with the degree of the inflammatory reaction, thus suggesting that HMGB1 may play a crucial role in chronic inflammatory disorders of the middle ear, as already demonstrated in other airway diseases. We analyzed 30 samples of middle-ear mucosa in patients affected by chronic suppurative otitis media with ear drum perforation with/without cholesteatoma and otosclerosis as control. The distribution of HMGB1 was evaluated as nuclear, cytoplasmic, and/or extracellular staining. The inflammatory cells observed in the biopsies were mostly lymphocytes and plasmacells. A statistically significant difference in inflammation score between otosclerosis and chronic otitis samples ( P < 0.01; Anova test) and between otosclerosis and cholesteatoma samples ( P < 0.05; Anova test) was observed; the HMGB1 positivity was in accordance with the density of the inflammatory infiltrate. HMGB1 is over-expressed in chronic middle-ear pathologies and may play a role in the progression of the inflammatory process from recurrent acute otitis media to chronic suppurative otitis media.

A rare case of osteonecrosis of the jaw related to imatinib.

Osteonecrosis of the jaw (ONJ) is commonly described as an adverse effect of the use of bisphosphonates. A few cases of ONJ associated with tyrosine kinase inhibitors (sunitinib, imatinib) have been reported in the literature and usually they occurred in patients simultaneously treated with bisphosphonates. We report an atypical case of ONJ related only to imatinib. A 72-year-old male patient was treated with imatinib for metastases from gastrointestinal stromal tumors (GISTs). The patient developed ONJ after 22 months of imatinib only therapy. During his whole life, the patient had never been treated with bisphosphonates or radiotherapy. Microscope examination of the tissues confirmed the clinical diagnosis of diffuse osteonecrosis and showed absence of neoplastic cells. Thus, secondary localisations from GISTs were ruled out. Osteonecrosis of the lower jaw appeared 22 months after initial and exclusive therapy with imatinib. Therefore, imatinib monotherapy can induce ONJ in patients that have never been treated with bisphosphonates or radiotherapy.

Stevens-Johnson syndrome and abuse of anabolic steroids.

Stevens-Johnson syndrome (SJS) is characterized by mucocutaneous tenderness and typical hemorrhagic erosions, erythema and epidermal detachment presenting as blisters and areas of denuded skin. SJS is often observed after drug use as well as after bacterial or viral infections. Several drugs are at high risk of inducing SJS, but there are no cases in the English literature regarding anabolic steroid use triggering SJS. In our paper, we describe a case in which use of anabolic androgenic steroids (AAS) was associated with SJS. The patient participated in competitive body-building and regularly took variable doses of AAS. Initial symptoms (headache, weakness, pharyngodynia, and fever) were ignored. After a week he presented to the Emergency Department with a burning sensation on the mouth, lips, and eyes. Painful, erythematous, maculopapular, and vesicular lesions appeared all over the body, including on the genitals. During hospitalization, he also developed a cardiac complication. The patient had not taken any drugs except AAS.

Unusual complications caused by lipoma of the tongue.

Lipoma is the most common, benign, soft tissue, mesenchymal tumour and is composed of mature adipose tissue. It is infrequent in the oral cavity (approximately 0.3% of all tongue neoplasias). We describe the case of a 68-year-old man with a swelling at the tongue edge and tongue dysesthesia. Medical history, clinical assessment, radiographic images, and cytological analysis enabled specialists to classify this neoplasia as a lipoma. The patient recovered fully after surgical excision of the affected area, and the neuralgic symptoms regressed. Surgical excision is an elective treatment; however, accurate differential diagnosis, histological examination, and follow-up are required.

Gingival Leiomyosarcoma in a Young Woman: Case report and literature review.

Leiomyosarcoma (LMS) is a rare mesenchymal malignancy, of which 3-10% of cases occur in the head and neck region. We report a 22-year-old woman who was referred to the University Hospital of Siena, Italy, in 2016 with an ostensibly benign asymptomatic lump on the mandibular gingiva. The lesion grew rapidly, causing otalgia in the right ear. An excisional biopsy was performed and primary LMS was diagnosed histologically. Subsequently, the patient underwent radical re-excision of the perilesional mucosa, a partial bone resection and the extraction of four teeth. No recurrences or metastases were detectable at a 20-month follow-up. This report discusses the differential diagnosis of LMS with regards to other benign and malignant lesions and reviews the recent literature on primary and secondary oral LMS. Due to its innocuous clinical features-including its asymptomatic nature and presentation at a young age-this aggressive malignancy can go undetected; therefore, an early histopathological diagnosis is crucial.

Rhinosinusal Inflammation and High Mobility Group Box 1 Protein: A New Target for Therapy.

BACKGROUND/AIMS: High mobility group box 1 (HMGB1) is a protein belonging to the class of damage-associated molecular pattern molecules, which activates innate immunity and powerful inflammatory factors. The aim of this review is to show the importance of HMGB1 in the pathogenesis of nasal inflammatory diseases and to suggest that inhibition of HMGB1 may be an innovative therapeutic target. METHODS: We used immunohistochemistry to study whether HMGB1 increases in chronic rhinosinusitis with nasal polyps and whether its expression is associated with eosinophils and inflammatory cytokines. Using primary cultures of human nasal epithelial cells, we localised lipopolysaccharide-induced active translocation and release of HMGB1 by immunofluorescence assay and Western blot. RESULTS: Patients with severe symptoms have the highest HMGB1 serum levels. Glycyrrhetic acid inhibits the chemotactic and mitogenic function of HMGB1, binding to the hydrophobic residues that delimit the pockets in box A and B. CONCLUSIONS: Chronic inflammatory diseases of the nose and paranasal sinuses are increasingly prevalent and are a financial burden for society. HMGB1 has been shown to play a role in several inflammatory diseases of otolaryngological interest. The inhibition of HMGB1 may be an innovative therapeutic target for patients with chronic upper airway inflammatory diseases having nasal obstruction as a major symptom.