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Keywords = facial nerve diseases

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16 pages, 1454 KiB  
Review
Managing a Burning Face: Clinical Manifestations and Therapeutic Approaches for Neurogenic Rosacea
by Gabriel Aedo, Marco Chahuán, Elsa Gatica, Isabel Herrera, Luis Felipe Parada, Alvaro Seguel, Nigel P. Murray, Sócrates Aedo and Diego Aragón-Caqueo
Int. J. Mol. Sci. 2025, 26(5), 2366; https://doi.org/10.3390/ijms26052366 - 6 Mar 2025
Cited by 2 | Viewed by 3219
Abstract
Rosacea is a common chronic inflammatory condition primarily affecting middle-aged women. It presents with flushing, erythema, telangiectasia, papules, pustules, phymatous changes, and ocular involvement. Although typically grouped into four subtypes—erythematotelangiectatic, papulopustular, ocular, and phymatous—overlapping features often favor a phenotypic diagnostic approach. Neurogenic rosacea [...] Read more.
Rosacea is a common chronic inflammatory condition primarily affecting middle-aged women. It presents with flushing, erythema, telangiectasia, papules, pustules, phymatous changes, and ocular involvement. Although typically grouped into four subtypes—erythematotelangiectatic, papulopustular, ocular, and phymatous—overlapping features often favor a phenotypic diagnostic approach. Neurogenic rosacea (NR) has emerged as a distinct subgroup featuring distinguishing features such as peripheral facial erythema, severe burning and stinging sensations, and resistance to standard rosacea therapies. Recent insights into the pathophysiology of NR propose neural dysregulation as the main driver of the condition. Specifically, the activation of TRP channels at cutaneous sensory nerve endings in the dermis triggers the release of vasoactive peptides, driving neuroinflammation and resulting in burning and stinging. Additionally, there is a marked association with neuropsychiatric comorbidities, which would further mediate the pathogenesis of the condition. In line with this pathophysiological model, NR often fails to respond to conventional rosacea treatments. Instead, patients benefit more from antidepressants and neuroleptic agents that help modulate neuronal activity and alleviate symptoms. This review explores and summarizes the scientific evidence regarding the new insights on disease pathogenesis, clinical manifestations, and proposed treatments for NR. Full article
(This article belongs to the Special Issue Dermatology: Advances in Pathophysiology and Therapies (2nd Edition))
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13 pages, 1346 KiB  
Article
The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative
by Imra Mantey, Felix Langerscheidt, Çağla Çakmak Durmaz, Naomi Baba, Katharina Burghardt, Mert Karakaya and Hans Zempel
Genes 2025, 16(2), 198; https://doi.org/10.3390/genes16020198 - 5 Feb 2025
Cited by 1 | Viewed by 1225
Abstract
Background: The nuclear-encoded enzyme polymerase gamma (Pol-γ) is crucial in the replication of the mitochondrial genome (mtDNA), which in turn is vital for mitochondria and hence numerous metabolic processes and energy production in eukaryotic cells. Variants in the POLG gene, which encodes the [...] Read more.
Background: The nuclear-encoded enzyme polymerase gamma (Pol-γ) is crucial in the replication of the mitochondrial genome (mtDNA), which in turn is vital for mitochondria and hence numerous metabolic processes and energy production in eukaryotic cells. Variants in the POLG gene, which encodes the catalytic subunit of Pol-γ, can significantly impair Pol-γ enzyme function. Pol-γ-associated disorders are referred to as POLG-spectrum disorders (POLG-SDs) and are mainly autosomal-recessively inherited. Clinical manifestations include muscle weakness and fatigue, and severe forms of the disease can lead to premature death in infancy, childhood, and early adulthood, often associated with seizures, liver failure, or intractable epilepsy. Here, we analyzed fibroblasts from a compound heterozygous patient with the established pathogenic variant c.2419C>T; p.(Arg807Cys) and a previously undescribed variant c.678G>C; p.(Gln226His) with a clinical manifestation compatible with POLG-SDs, sensory ataxic neuropathy, and infantile muscular atrophy. We conducted a battery of functional studies for Pol-γ and mitochondrial dysfunction on the patient’s fibroblasts, to test whether the novel variant c.678G>C; p.(Gln226His) may be causative in human disease. Aims/Methods: We analyzed skin-derived fibroblasts in comparison to a first-degree relative (the mother of the patient), an asymptomatic carrier harboring only the established c.2419C>T; p.(Arg807Cys) mutation. Assessments of mitochondrial function included measurements of mtDNA content, mRNA levels of mitochondrial genes, mitochondrial mass, and mitochondrial morphology. Case Presentation and Results: A 13-year-old male presented with symptoms starting at three years of age, including muscle weakness and atrophy in the lower extremities and facial muscles, which later extended to the upper limbs, voice, and back muscles, without further progression. The patient also reported fatigue and muscle pain after physical activity, with no sensory deficits. Extensive diagnostic tests such as electromyography, nerve conduction studies, muscle biopsy, and MRI were unremarkable. Exome sequencing revealed that he carried the compound heterozygous variants in POLG c.678G>C; p.(Gln226His) and c.2419C>T; p.(Arg807Cys), but no other potential genetic pathogenic causes. In comparison to a first-degree relative (his mother) who only carried the c.2419C>T; p.(Arg807Cys) pathogenic mutation, in vitro analyses revealed a significant reduction in mtDNA content (~50%) and mRNA levels of mtDNA-encoded proteins. Mitochondrial mass was reduced by approximately 20%, and mitochondrial interconnectivity within cells was impaired, as determined by fluorescence microscopy and mitochondrial staining. Conclusions: Our findings suggest that the c.678G>C; p.(Gln226His) variant, in conjunction with the c.2419C>T; p.(Arg807Cys) mutation, may compromise mtDNA replication and mitochondrial function and could result in clinically significant mitochondriopathy. As this study is based on one patient compared to a first-degree relative (but with an identical mitochondrial genome), the pathogenicity of c.678G>C; p.(Gln226His) of POLG should be confirmed in future studies, in particular, in conjunction with other POLG-variants. Full article
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16 pages, 2336 KiB  
Systematic Review
Proprioceptive Neuromuscular Facilitation and/or Electrical Stimulation in Patients with Peripheral Facial Paralysis: A Systematic Review
by Nerea Dominguez-Defez, Juan Lopez-Barreiro, Pablo Hernandez-Lucas and Ana González-Castro
Neurol. Int. 2025, 17(2), 17; https://doi.org/10.3390/neurolint17020017 - 23 Jan 2025
Viewed by 3593
Abstract
Background: Peripheral facial paralysis (PFP) affects the facial nerve, the seventh cranial nerve. It has an incidence rate of 20–30 cases per 100,000 habitants. The diagnosis is clinical, though imaging tests may be required in some cases. The treatment protocol includes medication, physiotherapy, [...] Read more.
Background: Peripheral facial paralysis (PFP) affects the facial nerve, the seventh cranial nerve. It has an incidence rate of 20–30 cases per 100,000 habitants. The diagnosis is clinical, though imaging tests may be required in some cases. The treatment protocol includes medication, physiotherapy, and, in certain cases, surgery. Proprioceptive neuromuscular facilitation (PNF) techniques and electrical stimulation have been shown to be significant for recovery. Although PFP has a high recovery rate, up to 40% of patients may experience permanent sequelae. Objective: to assess the efficacy of treatment based on electrical stimulation and/or PNF in patients affected by PFP. Methods: A systematic search was conducted across six databases (PubMed, Medline, SportDiscus, CINAHL, Scopus, and Web of Science) in November 2024. Randomized controlled trials were included. Results: Fourteen articles were analyzed, applying PNF and/or electrical stimulation methods, pharmacological treatment, low-level laser treatment, subcutaneous collagen injections, and physiotherapy protocols involving facial expression exercises, yielding evidence for the variables assessed. Conclusions: PNF and/or electrical stimulation treatment in patients with PFP can be effective when employed early with appropriate parameters, showing promising results in improving quality of life, facial movement quality, and CMAP and reducing both the incidence and degree of synkinesis. Full article
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11 pages, 5924 KiB  
Case Report
Rhabdomyosarcoma of the Middle Ear Case Report
by Stoyan Stefanov Markov, Mariya Ivanova Spasova, Neofit Iuriev Spasov and Petya Petkova Markova
Children 2024, 11(12), 1496; https://doi.org/10.3390/children11121496 - 8 Dec 2024
Cited by 1 | Viewed by 1252
Abstract
Background: Rhabdomyosarcoma (RMS) is a highly malignant soft tissue tumor derived from primitive embryonal mesenchymal tissue that differentiates into striated skeletal muscle. Despite the improved outcome based on the EFS and OS using the three different treatment modalities-chemotherapy, radiotherapy and surgical treatment, the [...] Read more.
Background: Rhabdomyosarcoma (RMS) is a highly malignant soft tissue tumor derived from primitive embryonal mesenchymal tissue that differentiates into striated skeletal muscle. Despite the improved outcome based on the EFS and OS using the three different treatment modalities-chemotherapy, radiotherapy and surgical treatment, the survival of patients depends on their IRS groups—pathological and surgical. On the other hand in the last thirty years a great improvement of the five-year overall survival (OS) of children with RMS have been observed based on the results of large multinational collaborative trials and successive studies dedicated to children, though prognosis is variable and dependent on several factors including histologic variant, primary sites of the tumor, extent of disease (disease resectability), and molecular-level characteristics. Case presentation: We present a clinical case of a five-year-old male with initial complains of left side peripheral facial nerve palsy and secondary cervical and retroauricular lymphadenomegaly. After an exam, surgery of the temporal bone, CT and MRI embryonal type of rhabdomyosarcoma was diagnosed, and adjuvant chemotherapy was initiated in combination with concomitant local radiotherapy. Results: The results show that in these areas surgery itself is insufficient for RMS treatment(usually it is limited to taking a biopsy only). The combination of chemotherapy and local control with radiotherapy achieved a good result in our patient. Conclusions: Middle ear Embryonal Rhabdomyosarcoma is a common solid tumor, which could mimic middle ear inflammation or mastoid inflammation in patients. The multimodal approach seemed to be the ideal management of RMS. It involves a combination of chemotherapy and local control with surgery and/or radiotherapy. Full article
(This article belongs to the Section Pediatric Hematology & Oncology)
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11 pages, 2669 KiB  
Article
Clinical Efficacy of Two Different Low-Level Laser Therapies for the Treatment of Trigeminal Neuralgia: A Randomized, Placebo-Controlled Trial
by İrem Karagözoğlu, Nermin Demirkol, Özge Parlar Öz, Gökçe Keçeci, Beste Çetin and Mutlu Özcan
J. Clin. Med. 2024, 13(22), 6890; https://doi.org/10.3390/jcm13226890 - 15 Nov 2024
Cited by 1 | Viewed by 2060
Abstract
Background: Trigeminal neuralgia (TN) is a disease that causes severe pain that can seriously affect the quality of life. This study aimed to compare the effectiveness of two different low-level laser therapies (LLLT) as alternatives to medical treatment to reduce pain and improve [...] Read more.
Background: Trigeminal neuralgia (TN) is a disease that causes severe pain that can seriously affect the quality of life. This study aimed to compare the effectiveness of two different low-level laser therapies (LLLT) as alternatives to medical treatment to reduce pain and improve the quality of life in patients with TN. Methods: A total of 45 patients were randomly divided into 3 groups. In the first group, a new-generation diode laser (GRR laser) was applied at predetermined points in the trigeminal nerve line. In the second group, a low-level neodymium-doped yttrium aluminum garnet (Nd:YAG) laser was applied along the affected nerve line. The placebo group received the same protocol with a Nd:YAG laser without the device switched on. The scores were recorded pre- and post-treatment using the Brief Pain Inventory-Facial (BPI-facial) scale. Results: A statistically significant difference was found between the pre- and post-treatment values of all four variables in the GRR laser, Nd:YAG laser, and placebo groups. When the post-treatment values were compared, statistically significant differences were found between the groups in pain frequency, pain intensity, and interference in facial-specific activities, but no differences were found in general activities. Conclusions: Both LLLTs can be considered alternative treatment modalities for TN, but the GRR laser treatment was more effective than the Nd:YAG laser treatment in reducing pain and improving the quality of life in patients with TN. Full article
(This article belongs to the Topic Advances in Dental Health)
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14 pages, 1089 KiB  
Article
Perioperative Observations and Outcome in Surgical Treatment of Malignant Peripheral Nerve Sheath Tumors
by Julian Zipfel, Jonas Tellermann, Kevin Paul Ferraris, Florian Grimm, Antje Bornemann, Benjamin Bender, Helmut Dittmann, Jürgen Schäfer, Konstantin Nikolaou, Ruth Ladurner, Volker Steger, Marcos Tatagiba, Martin U. Schuhmann and Isabel Gugel
Cancers 2024, 16(22), 3757; https://doi.org/10.3390/cancers16223757 - 7 Nov 2024
Viewed by 1238
Abstract
Background/Objectives: This retrospective observational study aimed to investigate the perioperative outcome in Malignant Peripheral Nerve Sheath Tumors (MPNSTs) with and without relation to Neurofibromatosis Type 1 (NF1) and to detect possible influencing factors. Methods: Clinical reports, histopathological evaluations, imaging, and treatment characteristics were [...] Read more.
Background/Objectives: This retrospective observational study aimed to investigate the perioperative outcome in Malignant Peripheral Nerve Sheath Tumors (MPNSTs) with and without relation to Neurofibromatosis Type 1 (NF1) and to detect possible influencing factors. Methods: Clinical reports, histopathological evaluations, imaging, and treatment characteristics were reviewed in 35 operated MPNSTs in 33 patients. Possible predictive valuables included disease type, preoperative tumor volume, SUV and MIB-1 proliferation index, resection margins, the presence of metastasis, and whether radio-/chemotherapy was received. Results: Patients with NF1 were younger (mean age: 29 ± 13, 8–54 years) than sporadic cases (mean age: 45 ± 13, 24–67 years) and exhibited significantly larger preoperative tumor volumes (mean 299 vs. 18 cm3, p = 0.048). Most tumors were located in the facial/cervical/neck area (34%, n = 12), followed by the trunk (31%, n = 11), lower extremity (17%, n = 6), upper extremity (14%, n = 5), and intraspinal area (3%, n = 1). NF1-associated MPNSTs appeared predominantly on the trunk (39%) and sporadically in the facial/cervical/neck area (50%). Complete resection was possible in 66% and an improvement in or stability of function was achieved in most cases (motor 69%, sensory 74%), as well as a decrease in pain intensity (63%). NF1-associated MPNSTs exhibited more severe pain scores (median VRS scale 2, p = 0.002) compared to sporadic tumors (median VRS scale 0.5). Sporadic MPNSTs located at the head/facial/brachial plexus and upper extremities exhibited better preoperative functions compared to those on the lower extremities. In 12 cases with available [18F]FDG PET, the mean preoperative SUV (9.8 ± 7.2) positively correlated with the mean maximum MIB-1 index (34 ± 26%, p = 0.005) and the mean preoperative tumor volume (474.7 ± 68.6 cm3, p = 0.047). The overall survival (OS) was significantly longer in tumors with higher resection extents (R0, p = 0.01) and without accompanying metastasis (p = 0.046), and tended to be longer, but not significantly so, in sporadic MPNSTs. In six and seven tumors, with R1/R2 resection margins and present metastasis, respectively, solid or combined neo-/adjuvant radio-/chemotherapy led to a significantly shorter OS (p = 0.014). Conclusions: NF1-associated MPNSTs have larger tumor volumes, higher SUVs and MIB-1 proliferation indices, and a shorter overall survival period. Nevertheless, surgery can improve symptoms, particularly medication-resistant pain, and should also be considered in advanced disease for symptom control/improvement. Full article
(This article belongs to the Special Issue Preoperative Optimisation in Patients Undergoing Cancer Surgery)
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18 pages, 2242 KiB  
Article
Comparing the Differences in Adverse Events among Chimeric Antigen Receptor T-Cell Therapies: A Real-World Pharmacovigilance Study
by Zihan Guo, Yunlan Ding, Mengmeng Wang, Qing Zhai, Jiyong Liu and Qiong Du
Pharmaceuticals 2024, 17(8), 1025; https://doi.org/10.3390/ph17081025 - 5 Aug 2024
Cited by 3 | Viewed by 2605
Abstract
In this study, we compared the similarities and differences in adverse events (AEs) among CAR T-cell products through signal mining via the FDA Adverse Event Reporting System (FAERS) and identified unknown AEs to provide a reference for safe clinical medication. Data from the [...] Read more.
In this study, we compared the similarities and differences in adverse events (AEs) among CAR T-cell products through signal mining via the FDA Adverse Event Reporting System (FAERS) and identified unknown AEs to provide a reference for safe clinical medication. Data from the FAERS database spanning from the fourth quarter of 2017 to the first quarter of 2024 were extracted. Signals were identified using the reporting odds ratio (ROR) method and the Medicines and Healthcare Products Regulatory Agency (MHRA) method. A total of 11,386 AE reports related to six CAR T-cell products were selected. The top three categories of AEs reported were nervous system disorders, immune system disorders, and general disorders and administration site conditions. However, there were variations in the AE spectra among the different CAR T-cell products. The BCMA-targeting drugs idecabtagene vicleucel (Ide-cel) and ciltacabtagene autoleucel (Cilta-cel) were found to be associated with parkinsonism, which were not observed in CD19-targeting drugs. Tisagenlecleucel (Tisa-cel) and axicabtagene ciloleucel (Axi-cel) exhibited cerebrovascular accident-related AEs, graft versus host disease, and abnormal coagulation indices. Cilta-cel was associated with cerebral hemorrhage, intracranial hemorrhage, cranial nerve disorder, and facial nerve disorder. Cardiopulmonary toxicity, including hypoxia, tachypnoea, cardiorenal syndrome, and hypotension, exhibited strong signal intensities and considerable overlap with CRS. The number of positive signals for cardiopulmonary toxicity associated with drugs targeting CD-19 is greater. Clinicians should assess patients prior to medication and closely monitor their vital signs, mental status, and laboratory parameters during treatment. Full article
(This article belongs to the Section Pharmacology)
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21 pages, 314 KiB  
Article
Surgical Management of Patients with Parotid Involvement from Non-Melanoma Skin Cancer of the Head and Neck
by Filippo Carta, Simone Corrias, Melania Tatti, Valeria Marrosu, Mauro Bontempi, Cinzia Mariani, Clara Gerosa, Caterina Ferreli, Matteo Atzeni, Filippo Boriani, Andrea Figus and Roberto Puxeddu
J. Pers. Med. 2024, 14(6), 631; https://doi.org/10.3390/jpm14060631 - 13 Jun 2024
Viewed by 1205
Abstract
We conducted a retrospective, longitudinal study on a single-center series of patients who underwent parotidectomy in the management of advanced head and neck non-melanoma skin cancer (hnNMSC). The aim of this study was to identify prognostic factors associated with worse outcomes. Forty-one men [...] Read more.
We conducted a retrospective, longitudinal study on a single-center series of patients who underwent parotidectomy in the management of advanced head and neck non-melanoma skin cancer (hnNMSC). The aim of this study was to identify prognostic factors associated with worse outcomes. Forty-one men and nine women were included. The mean age at the time of surgery was 78.9 years. The 5-year overall survival, disease-specific survival, locoregional recurrence-free survival, and distant metastasis-free survival calculated with Kaplan–Meier curves were 39.9%, 56.3%, 58.6%, and 82.1%, respectively. A univariate analysis showed that the status of the margins, facial nerve direct involvement, lymph vascular invasion, and histological grading were associated with worse outcomes (p < 0.05). Positive margins were associated with worse disease-specific survival also in a multivariate analysis (p = 0.001, HR = 32.02, and CIs 4.338 to 351.3). Because the resection in free margins is the most important prognostic factor, early diagnosis or, in the case of advanced disease, extensive surgical resection with concomitant reconstruction is needed. Adjuvant therapy is indicated in selected cases. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
11 pages, 873 KiB  
Article
Integrating Ataxia Evaluation into Tumor-Induced Hearing Loss Model to Comprehensively Study NF2-Related Schwannomatosis
by Simeng Lu, Zhenzhen Yin, Jie Chen, Limeng Wu, Yao Sun, Xing Gao, Peigen Huang, Justin T. Jordan, Scott R. Plotkin and Lei Xu
Cancers 2024, 16(11), 1961; https://doi.org/10.3390/cancers16111961 - 22 May 2024
Viewed by 1755
Abstract
NF2-related Schwannomatosis (NF2-SWN) is a disease that needs new solutions. The hallmark of NF2-SWN, a dominantly inherited neoplasia syndrome, is bilateral vestibular schwannomas (VSs), which progressively enlarge, leading to sensorineural hearing loss, tinnitus, facial weakness, and pain that translates to social impairment and [...] Read more.
NF2-related Schwannomatosis (NF2-SWN) is a disease that needs new solutions. The hallmark of NF2-SWN, a dominantly inherited neoplasia syndrome, is bilateral vestibular schwannomas (VSs), which progressively enlarge, leading to sensorineural hearing loss, tinnitus, facial weakness, and pain that translates to social impairment and clinical depression. Standard treatments for growing VSs include surgery and radiation therapy (RT); however, both carry the risk of further nerve damage that can result in deafness and facial palsy. The resultant suffering and debility, in combination with the paucity of therapeutic options, make the effective treatment of NF2-SWN a major unmet medical need. A better understanding of these mechanisms is essential to developing novel therapeutic targets to control tumor growth and improve patients’ quality of life. Previously, we developed the first orthotopic cerebellopontine angle mouse model of VSs, which faithfully mimics tumor-induced hearing loss. In this model, we observed that mice exhibit symptoms of ataxia and vestibular dysfunction. Therefore, we further developed a panel of five tests suitable for the mouse VS model and investigated how tumor growth and treatment affect gait, coordination, and motor function. Using this panel of ataxia tests, we demonstrated that both ataxia and motor function deteriorated concomitantly with tumor progression. We further demonstrated that (i) treatment with anti-VEGF resulted in tumor size reduction, mitigated ataxia, and improved rotarod performance; (ii) treatment with crizotinib stabilized tumor growth and led to improvements in both ataxia and rotarod performance; and (iii) treatment with losartan did not impact tumor growth nor ameliorate ataxia or motor function. Our studies demonstrated that these methods, paired with hearing tests, enable a comprehensive evaluation of tumor-induced neurological deficits and facilitate the assessment of the effectiveness of novel therapeutics to improve NF2 treatments. Full article
(This article belongs to the Special Issue Hot Topics in Neuro-Oncology)
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14 pages, 9388 KiB  
Article
Long-Term Surgical Outcome of Class A and B Tympanomastoid Paragangliomas
by Melcol Hailu Yilala, Giuseppe Fancello, Virginia Fancello, Lorenzo Lauda and Mario Sanna
Cancers 2024, 16(8), 1466; https://doi.org/10.3390/cancers16081466 - 11 Apr 2024
Cited by 4 | Viewed by 1725
Abstract
Objective: To analyze the long-term facial function as well as overall postoperative condition in surgically treated tympanomastoid PGL patients. Study Design: Retrospective study. Method: The medical records of patients with surgically managed class A and B tympanomastoid PGLs between 1983 and 2023 were [...] Read more.
Objective: To analyze the long-term facial function as well as overall postoperative condition in surgically treated tympanomastoid PGL patients. Study Design: Retrospective study. Method: The medical records of patients with surgically managed class A and B tympanomastoid PGLs between 1983 and 2023 were thoroughly evaluated. Result: Our center has treated a total of 213 cases of tympanomastoid PGL surgically. The mean age of patients was 54, and the male-to-female ratio was 1:6. The most common symptoms at presentation were hearing loss (80%), pulsatile tinnitus (77%), and vertigo (15%). According to the modified Fisch classification, 45% of the cases were classified as class A (A1 and A2), while 55% were classified as class B (B1, B2, and B3). All class A and most class B1 and B2 tumors were removed either with transcanal or retroauricular-transcanal approaches. However, more advanced class B3 lesions were removed with subtotal petrosectomy (SP) along with middle ear obliteration. Facial nerve outcome was excellent in all class A and B cases, while chances of postoperative paresis slightly increased with the size and extent of the tumor (p < 0.05). The hearing outcome is excellent for class A1, A2, B1, and B2 tumors, whereas more advanced class B3 cases have a loss of air conduction (AC) and increased bone conduction (BC) threshold (p < 0.05). Complete surgical removal was achieved in 97% of our cases. The most common late complication was permanent TM perforation (7%), and the recurrence rate was 3%. Conclusions: Tympanomastoid PGL represents the most common neoplasm of the middle ear space. The most frequent presenting symptoms include pulsatile tinnitus and hearing loss, whereas the presence of retrotympanic mass was evident in all cases at the time of initial otoscopic evaluation. Proper documentation of facial function and audiometric evaluation are crucial elements of preoperative workup. The most preferred preoperative radiologic examination is high-resolution computer tomography (HRCT), whereas magnetic resonance imaging (MRI) with or without gadolinium enhancement is reserved for cases with a dilemma of carotid artery or jugular bulb involvement. The main goal of tympanomastoid PGL treatment is complete disease removal with preservation of hearing and facial functions. Surgical treatment remains the preferred treatment modality with the benefits of complete disease removal, lower rate of recurrence and complication, and acceptable postoperative hearing level. Here, we present our 40 years of experience, which, to the very best of our knowledge, is the largest series of tympanomastoid PGL in the English literature. Full article
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9 pages, 1473 KiB  
Article
Selective Vestibular Neurectomy through the Presigmoid Retrolabyrinthine Approach in the Treatment of Meniere’s Disease
by Fabrizio Salvinelli, Francesca Bonifacio, Mara Capece, Denis Aiudi, Alessio Iacoangeli, Fabio Greco, Maurizio Gladi and Maurizio Iacoangeli
Brain Sci. 2024, 14(4), 369; https://doi.org/10.3390/brainsci14040369 - 11 Apr 2024
Cited by 2 | Viewed by 4311
Abstract
Background: Meniere’s disease (MD) is a disabling disease, especially in patients who are refractory to medical therapy. Moreover, selective vestibular neurectomy (VN), in these selected cases, can be considered a surgical alternative which preserves hearing function and facial nerve. Methods: We retrospectively studied [...] Read more.
Background: Meniere’s disease (MD) is a disabling disease, especially in patients who are refractory to medical therapy. Moreover, selective vestibular neurectomy (VN), in these selected cases, can be considered a surgical alternative which preserves hearing function and facial nerve. Methods: We retrospectively studied 23 patients with MD diagnosis and history of failed extradural endolymphatic sac surgery (ELSS) who underwent combined micro-endoscopic selective VN, between January 2019 and August 2023, via a presigmoid retrolabyrinthine approach. All patients were stratified according to clinical features, assessing preoperative and postoperative hearing levels and quality of life. Results: At the maximum present follow-up of 2 years, this procedure is characterized by a low rate of complications and about 90% vertigo control after surgery. No definitive facial palsy or hearing loss was described in this series. One patient required reintervention for a CSF fistula. Statistically significant (p = 0.001) difference was found between the preoperative and the postoperative performance in terms of physical, functional, and emotive scales assessed via the DHI questionnaire. Conclusions: Selective VN via a presigmoid retrolabyrinthine approach is a safe procedure for intractable vertigo associated with MD, when residual hearing function still exists. The use of the endoscope and intraoperative neuromonitoring guaranteed a precise result, saving the cochlear fibers and facial nerve. The approach for VN is a familiar procedure to the otolaryngologist, as is lateral skull base anatomy to the neurosurgeon; therefore, the best results are obtained with multidisciplinary teamwork. Full article
(This article belongs to the Special Issue New Advances in Functional Neurosurgery)
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10 pages, 364 KiB  
Article
Pediatric Lyme Disease in Northern Italy: An 18-Year Single-Center Case Series
by Federica Forlanini, Raffaella Di Tonno, Roberta Caiazzo, Daniela David, Maria Sole Valentino, Sara Giordana Rimoldi, Gian Vincenzo Zuccotti, Giusto Trevisan, Francesca Wanda Basile and Vania Giacomet
Microorganisms 2024, 12(3), 455; https://doi.org/10.3390/microorganisms12030455 - 23 Feb 2024
Cited by 1 | Viewed by 2437
Abstract
Tracing the profile of pediatric Lyme borreliosis (LB) in Europe is difficult due to the interregional variation in its incidence and lack in notifications. Moreover, the identification of LB can be challenging. This study is an 18-year case series of 130 children and [...] Read more.
Tracing the profile of pediatric Lyme borreliosis (LB) in Europe is difficult due to the interregional variation in its incidence and lack in notifications. Moreover, the identification of LB can be challenging. This study is an 18-year case series of 130 children and adolescents aged under 18 years referred to the Pediatric Infectious Diseases Unit at L. Sacco Hospital, Milan, with suspicion of LB, between January 2005 and July 2023. The routine serological workup consisted of a two-step process: an initial screening test followed by Western blot (WB). Forty-four (34%) patients were diagnosed with LB. The median age was six years, and 45% were females. Of the children with erythema migrans (EM), 33 (57%) were confirmed as having true EM, and, of these, 4 (12%) were atypical. Ten (23%) patients had early disseminated/late diseases, including facial nerve palsy (n = 3), early neuroborreliosis (n = 1), arthritis (n = 3), relapsing fever (n = 2), and borrelial lymphocytoma (n = 1). No asymptomatic infections were documented. Over seventy percent of confirmed LB cases (n = 31/44) recalled a history of tick bites; in this latter group, 19 (61%) were from the area of the Po River valley in Lombardy. Almost half of the children evaluated for LB complained of non-specific symptoms (fatigue, musculoskeletal pain, skin lesions/rash, and persistent headache), but these symptoms were observed in only two patients with confirmed LB. Most LB cases in our study were associated with EM; two-tier testing specificity was high, but we found frequent non-adherence to international recommendations with regard to the timing of serology, application of the two-step algorithm, and antibiotic over-prescription. Most children were initially assessed for a tick bite or a skin lesion suggestive of EM by a family pediatrician, highlighting the importance of improving awareness and knowledge around LB management at the primary healthcare level. Finally, the strengthening of LB surveillance at the national and European levels is necessary. Full article
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9 pages, 7601 KiB  
Case Report
Neurocutaneous Melanosis with Meningeal Melanocytosis: A Rare Case of Intracranial Hypertension and Cutaneous Manifestations
by Hsien-Chung Chen, Tsung-I Hsu, Tsu-Yi Chao and Shun-Tai Yang
Life 2024, 14(1), 139; https://doi.org/10.3390/life14010139 - 18 Jan 2024
Cited by 1 | Viewed by 3794
Abstract
A 50-year-old male presented to the emergency room after experiencing sudden right upper limb facial numbness and dysphasia, followed by full recovery. A brain CT scan showed hyperdense lesions within the left hemispheric sulcus, which raised suspicion of spontaneous subarachnoid hemorrhage. A T1-weighted [...] Read more.
A 50-year-old male presented to the emergency room after experiencing sudden right upper limb facial numbness and dysphasia, followed by full recovery. A brain CT scan showed hyperdense lesions within the left hemispheric sulcus, which raised suspicion of spontaneous subarachnoid hemorrhage. A T1-weighted MRI showed multiple tiny leptomeningeal enhancements in the same area, and a digital subtraction angiography showed no signs of vascular abnormality. Cerebrospinal fluid cytology revealed atypical melanin-containing cells with minimal pleomorphism. One month later, the patient developed sixth nerve palsy, which was determined to be due to intracranial hypertension. Multiple giant nevi on the legs, trunk, and scalp were also observed. A skin biopsy showed well-defined and symmetrical proliferation of melanocytic nevus cell nests in the dermis. An open biopsy was performed due to the suspicious leptomeningeal lesions, which surprisingly revealed diffuse and thick black-colored tissue infiltration of the leptomeninges. Pathology confirmed the diagnosis of meningeal melanocytosis. A ventriculoperitoneal shunt was then placed, and the patient’s neurological symptoms gradually improved. Based on the presence of multiple giant nevi on the patient’s skin and the finding of diffuse meningeal melanocytosis during the open biopsy, the patient was diagnosed with neurocutaneous melanosis. The patient received 6 cycles triweekly of Ipilimumab and Nivolumab 8 months after initial diagnosis. Unfortunately, the disease progressed and the patient passed away 14 months after initial diagnosis. Full article
(This article belongs to the Special Issue Novel Insights into Medical Oncology)
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4 pages, 570 KiB  
Article
Deoxycholic Acid for Submental Convexity: A MAUDE Database Analysis
by Anna Celeste Gibson, Anvesh Kompelli, Carissa Saadi, Vijay A. Patel, Robert A. Saadi and Tom Shokri
Craniomaxillofac. Trauma Reconstr. 2024, 17(4), 42; https://doi.org/10.1177/19433875231226034 - 8 Jan 2024
Viewed by 169
Abstract
Study Design: The study was a retrospective cross-sectional database analysis. Objective: Deoxycholic acid (DOC) injections are a novel, in-office procedural alternative to submental liposuction or submentoplasty to address excess submental fat. Post-market safety data regarding this treatment is currently limited. The objective of [...] Read more.
Study Design: The study was a retrospective cross-sectional database analysis. Objective: Deoxycholic acid (DOC) injections are a novel, in-office procedural alternative to submental liposuction or submentoplasty to address excess submental fat. Post-market safety data regarding this treatment is currently limited. The objective of this study is to analyze adverse events reported in the Manufacturer and User Facility Device Experience (MAUDE) database. Methods: The MAUDE database was queried for all reports related to adverse events involving deoxycholic acid using the search terms “KYBELLA” and “deoxycholic acid.” Reports were individually reviewed by 2 reviewers and categorized with special attention to adverse events. Results: A total of 34 medical device reports were identified from the database query. Thirteen of these reports (21 total events) were included in the analysis after excluding duplicates, unrelated adverse events, or events associated with the offlabel use of DOC. Reported adverse events include excessive swelling (n = 5, 24%), marginal mandibular nerve weakness (n = 4, 19%), unsatisfactory aesthetic outcome (n = 4, 19%), numbness (n = 3, 14%), dysphagia (n = 1, 5%), infection (n = 1, 5%), and skin necrosis (n = 3, 14%). Two patients required hospitalization for skin necrosis management; both had underlying systemic diseases. Conclusions: Adverse events following DOC injections included excessive swelling, dysphagia, numbness, infection, unsatisfactory aesthetic outcome, facial nerve weakness, and skin necrosis requiring hospitalization and/or surgery. Patient counseling regarding these adverse events should be discussed when offering DOC injections for submental convexity. Full article
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10 pages, 644 KiB  
Article
Optimal Bell’s Palsy Treatment: Steroids, Antivirals, and a Timely and Personalized Approach
by Hwa Sung Rim, Jae Yong Byun, Sang Hoon Kim and Seung Geun Yeo
J. Clin. Med. 2024, 13(1), 51; https://doi.org/10.3390/jcm13010051 - 21 Dec 2023
Cited by 5 | Viewed by 4962
Abstract
Importance: The optimal treatment approach for patients with Bell’s palsy, a condition characterized by acute facial nerve palsy, remains unclear. The present study was designed to provide insights into the most effective treatment strategies, whether steroids alone or steroids plus antiviral agents, as [...] Read more.
Importance: The optimal treatment approach for patients with Bell’s palsy, a condition characterized by acute facial nerve palsy, remains unclear. The present study was designed to provide insights into the most effective treatment strategies, whether steroids alone or steroids plus antiviral agents, as well as the optimal timing of treatment initiation. Objective: To investigate the impact of treatment modalities and timing on the recovery rates of Bell’s palsy patients and to assess the roles of individual factors. Design, Setting, and Participants: This retrospective analysis included 1504 patients with Bell’s palsy who visited Kyung Hee University Hospital. Patients were divided based on the treatment modality (steroid monotherapy vs. combined steroid and antiviral therapy) and the timing of treatment initiation (≤72 vs. >72 h). Main Outcomes and Measures: The primary outcome was the recovery rate, as assessed by the House–Brackmann (HB) grade. Secondary outcomes included factors such as age, electroneurography (ENoG) and electromyography (EMG) results, and comorbid conditions. Results: A combined comparison of patients treated with steroids plus antivirals and steroids alone, stratified by treatment start time, showed that recovery rates were highest in patients who received steroid monotherapy initiated within 72 h (OR 2.36; p < 0.05). Patients with severe Bell’s palsy tended to benefit more from combined therapy when treatment was initiated within 72 h. The recovery rate was higher in patients who received steroid monotherapy than combined therapy (86.32% vs. 79.25%, p < 0.05). Initiating treatment beyond 72 h was associated with a higher recovery rate than starting treatment within 72 h (85.69% vs. 76.92%, p < 0.05). An evaluation of the factors affecting recovery showed that patients aged 20 to 39 years had a higher recovery rate than other age groups (OR 1.47; p < 0.05). Fairly predictive EMG results were associated with significantly higher recovery rates (OR 3.52; p < 0.05). Conclusions: These findings underscore the importance of individualized treatment approaches in Bell’s palsy management. Steroid monotherapy remains effective, although combined treatment may have potential advantages, especially in patients with more severe disease. The best treatment results were achieved when steroid treatment was administered within 72 h. Our results suggest that there may be more flexibility in the application of the 72 h treatment period if we consider the time of treatment initiation alone, but this should take into account patient behavior patterns and the limitations of retrospective analysis. Further research is warranted to validate these findings and refine treatment recommendations for patients with Bell’s palsy. Full article
(This article belongs to the Section Otolaryngology)
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