Blumen S.C.,Hillel Yaffe Medical Center |
Blumen S.C.,Technion - Israel Institute of Technology |
Astord S.,University Pierre and Marie Curie |
Robin V.,University Pierre and Marie Curie |
And 15 more authors.
Annals of Neurology | Year: 2012
Objective: Distal hereditary motor neuropathies (dHMN) form a clinically and genetically heterogeneous group of disorders, characterized by muscle weakness and atrophy predominating at the distal part of the limbs, due to the progressive degeneration of motor neurons in the spinal cord. We report here a novel rare variant of dHMN with autosomal recessive inheritance in a large Jewish family originating from Morocco. The disease is characterized by a predominance of paralysis at the lower limbs and an early adulthood onset. We performed a genetic study in this family to identify and characterized the causing mutation. Methods: Homozygosity mapping strategy and sequencing of the candidate genes were performed. Expression studies were made on patient fibroblasts. Functional experiments were performed on a cellular model of motor neuron disease. Results: We mapped the disease to the 2q34-q36.1 chromosomal region and identified a homozygous splice mutation in the gene HSJ1 (DNAJB2) decreasing the expression of the 2 main isoforms HSJ1a and HSJ1b. Overexpression of both HSJ1a and HSJ1b reduced inclusion formation induced by the mutated SOD1-A4V in a neuronal cellular model. Interpretation: HSJ1 is a neuronal enriched member of the HSP40/DNAJ co-chaperone family. Previous studies have shown that HSP40 proteins play a crucial role in protein aggregation and neurodegeneration in several neuronal types, in animal models and human diseases. Interestingly, this mutation causing a loss-of-function of HSJ1 is linked to a pure lower motor neuron disease, strongly suggesting that HSJ1 also plays an important and specific role in motor neurons. Copyright © 2011 American Neurological Association.
PubMed | Stallergenes, IRCCS A.O.U. San Martino, Otorhinolaryngology Unit and University of Bari
Type: Journal Article | Journal: Journal of biological regulators and homeostatic agents | Year: 2016
Nitric oxide (NO) is a molecule that performs many functions in the human body. The entire respiratory tract can produce NO, but the highest production occurs in the upper respiratory tract, in the paranasal sinuses in particular. The aim of the present study was to assess a new nasal NO (nNO) measurement method using the Niox MINO Nasal device (Aerocrine AB, Solna, Sweden) and a special procedure, in order to compare the nNO values obtained in 32 healthy subjects with the values found in the international literature. The measured normal nNO values were equal to 426.76143.27 ppb, with a 95% confidence interval [160.22-733.30]. Males had an average nNO value equal to 446.76133.63 [178.64 714.02], whereas in females the average value was 403.80154.90 [94.00-713.60]. This study allows us to confirm that we have been able to establish the normal range of nitric oxide quantity produced in the nasal/sinus cavities of healthy individuals using the Niox MINO Nasal device and tidal-breathing with velum-closure manoeuvre.
Santi R.,University of Florence |
Franchi A.,University of Florence |
Saladino V.,University of Florence |
Trovati M.,Otorhinolaryngology Unit |
And 3 more authors.
Head and Neck Pathology | Year: 2015
Paragangliomas (PGs) of the head and neck region are typically benign, slow-growing neuroendocrine tumours. At times, they may exhibit unusual histological features, such as prominent stromal sclerosis (sclerosing PG), which may raise concerns of malignancy. We describe a case of sclerosing PG of the carotid body, emphasizing the value of immunohistochemical stains for differential diagnosis. A 43-year-old woman presented with a painless lump on the neck. A magnetic resonance imaging scan demonstrated a hypervascular lesion of the carotid body, which was surgically excised. Grossly, the lesion measured 1.8 cm at maximum diameter. On microscopic examination, irregular nests and tiny bundles of neoplastic cells were found between thick bands of fibrous tissue. Focal nuclear cytomegaly and marked pleomorphism were noted. Neoplastic cells proved to be immunoreactive for chromogranin, synaptophysin and neuron specific enolase, but negative for cytokeratins, smooth muscle actin and CD34. Ultrastructurally, numerous mitochondria, rough endoplasmic reticulum structures and endocrine granules were seen in the cytoplasm of the tumour cells. On consideration of the above-mentioned clinico-pathological and ultrastructural findings a diagnosis of sclerosing PG was established. Sclerosing PG is a rare entity which may mimic a malignant neoplasm. The recognition of this unusual morphological variant of PG, together with appropriate immunostains, leads to the correct diagnosis. © 2014, Springer Science+Business Media New York.
PubMed | L Pierantoni Hospital, University of Michigan, University of Pisa, Otorhinolaryngology Unit and Gb Morgagni L Pierantoni Hospital
Type: | Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | Year: 2016
Pediatric obstructive sleep apnea syndrome (OSAS) is primarily caused by adenotonsillar hypertrophy. However, tongue base hypertrophy is increasingly being recognized as a cause, even after adenotonsillectomy. We report three cases of pediatric OSAS successfully treated by transoral robotic reduction of the tongue base. In all children, we were able to achieve improved retrolingual patency while avoiding significant procedure-related morbidity. In conclusion, tongue base reduction by transoral robotic surgery appears to be a feasible solution for the base of tongue obstruction due to lingual tonsil hypertrophy in pediatric patients.
PubMed | University of Pisa, Otorhinolaryngology Unit and Respiratory Pathophysiology Unit
Type: Journal Article | Journal: The Laryngoscope | Year: 2016
To evaluate the clinical features of audiologic impairment and its relationship with the nasal, vestibular, and rheumatologic profile in a cohort of patients with eosinophilic granulomatosis with polyangiitis (EGPA), formerly named Churg-Strauss syndrome.Prospective cross-sectional study.Thirty-nine patients with EGPA, considered controlled according to the Birmingham Vasculitis Activity Score and the Vasculitis Damage Index, underwent a complete audiologic evalutaion with otomicroscopy, impedance audiometry, speech audiometry, and auditory brainstem responses; rhinologic evaluation was made by means of fiberoptic endoscopy and nasal cytology; the clinical evaluation was completed with analysis of the facial function and, in patients with referred vertigo, with videonystagmography (VNG). Data were compared to the rheumatologic profile (eosinophil count, antineutrophil cytoplasmic antibodies status).Thirty-four of 39 patients fulfilled the inclusion criteria. Of those, 18 (52, 8%) were affected by variable degrees of hearing loss (sensorineural hearing loss [SNHL]) in four cases (11, 8%), mixed sensorineural and conductive hearing loss in two (5, 9%), presbycusis in six (17, 6%), and otitis media with effusion (OME) in six (17, 6%). Vestibular impairment was represented by benign paroxysmal positional vertigo and unspecific dizziness in three (8, 8%) and four cases (11, 8%), respectively, all with normal VNG. Ear involvement was statistically related to the EGPA vasculitic pattern and independent from the nasal impairment, cytology, and duration of nasal symptoms. No facial palsy was registered.In our experience, the largest in the existing literature, the otological involvement in EGPA is common and may occur variably as SNHL or OME. Otological involvement occurs early in the course of the disease process, but is nonspecific in making the diagnosis of EGPA. Its recognition is therefore fundamental.4. Laryngoscope, 126:2792-2797, 2016.
PubMed | SantOrsola Malpighi Hospital, Fatebenefratelli Hospital, University of Cagliari, University of Pavia and 4 more.
Type: Journal Article | Journal: Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale | Year: 2016
This draft of the Official Round Table held during the 101(st) SIO National Congress is an updated review on sialoendoscopy, a technique used for diagnosis and treatment of obstructive pathologies of salivary glands in a minimally invasive fashion. This review treats many aspects of salivary gland endoscopy, starting from anatomy to deal with the more advanced surgical techniques and analyses the main decisional algorithms proposed in the literature. In addition, particular attention was directed to the current limitations of this technique and to the potential developments that sialoendoscopy could have in the near future.
Gilyoma J.M.,Otorhinolaryngology unit |
Gilyoma J.M.,Catholic University of Health and Allied Sciences |
Hauli K.A.,Catholic University of Health and Allied Sciences |
Chalya P.L.,Catholic University of Health and Allied Sciences
BMC Emergency Medicine | Year: 2014
Background: Cut throat injuries though rarely reported in literature pose a great therapeutic challenge because multiple vital structures are vulnerable to injuries in the small, confined unprotected area. A sudden increase in the number of cut throat patients in our centre in recent years prompted the authors to analyze this problem. This study was conducted in our local setting to describe the etiology, patterns and treatment outcome of these injuries.Methods: This was a combined retrospective and prospective study of cut throat injury patients who were managed at Bugando Medical Centre between February 2009 and January 2013. Statistical data analysis was done using SPSS software version 17.0.Results: A total of 98 patients with cut throat injuries were studied. Males outnumbered females by a ratio of 2.4: 1. The median age of patients was 26 years (range 8 to 78 years). Majority of patients (79.6%) had no employment and most of them (65.3%) came from rural community. Homicide was the commonest (55.1%) cause, followed by suicidal attempts (34.7%) and accidental (10.2%) injuries. Interpersonal conflict (24.4%) was the most common motivating factor for homicidal injury whereas psychiatric illness (16.2%) and road traffic accidents (9.2%) were the most frequent motivating factors of suicidal attempt and accidental injuries respectively. The majority of injuries were in Zone II accounting for 65.3% of cases and most of them had laryngeal (57.1%) injury. Surgical debridement, laryngeal/hypopharynx repair and tracheostomy were the most common surgical procedures performed in 93.9%, 73.5% and 70.4% of patients respectively. Postoperative complication rate was 57.1%, the commonest being surgical site infections in 28.1% of patients and it was significantly associated with late presentation and anatomical zones (P < 0.001). The overall median duration of hospitalization was 12 days. Patients who had postoperative complications stayed longer in the hospital and this was statistically significant (p = 0.011). Mortality rate was 11.2% and was significantly associated with co-morbidities, delayed presentation and presence of complications (p < 0.001). The follow up of patients was poor.Conclusions: Cut throat injuries are a major cause of morbidity and mortality among young adult males in our setting. Addressing the root causes of violence such as poverty, unemployment, and substance abuse will reduce the incidence of these injuries in our environment. © 2014 Gilyoma et al.; licensee BioMed Central Ltd.
Gilyoma J.M.,Otorhinolaryngology Unit |
Gilyoma J.M.,Catholic University of Health and Allied Sciences |
Chalya P.L.,Catholic University of Health and Allied Sciences
BMC Ear, Nose and Throat Disorders | Year: 2013
Background: Injuries to the ear, nose and throat (ENT) regions are not uncommon in clinical practice and constitute a significant cause of morbidity and mortality in our setting. There is dearth of literature on this subject in our environment. This study was conducted to describe the causes, injury pattern and outcome of these injuries in our setting and proffer possible preventive measures. Methods: This was a descriptive prospective study of patients with ear, nose and throat injuries managed at Bugando Medical Centre between May 2007 and April 2012. Ethical approval to conduct the study was sought from relevant authorities. Statistical data analysis was performed using SPSS computer software version 17.0. Results: A total of 456 patients were studied. The median age of patients at presentation was 18 years (range 1 to 72 years). The male to female ratio was 2:1. The commonest cause of injury was foreign bodies (61.8%) followed by road traffic accidents (22.4%). The ear was the most common body region injured accounting for 59.0% of cases. The majority of patients (324, 71.1%) were treated as an outpatient and only 132(28.9%) patients required admission to the ENT wards after definitive treatment. Foreign body removal and surgical wound debridement were the most common treatment modalities performed in 61.9% and 16.2% of cases respectively. Complication rate was 14.9%. Suppurative otitis media (30.9%) was the commonest complication in the ear while traumatic epistaxis (26.5%) and hoarseness of voice (11.8%) in the aero-digestive tract were commonest in the nose and throat. The overall median length of hospital stay for in-patients was 8 days (range 1 to 22 days). Patients who developed complications and those who had associated injuries stayed longer in the hospital (P < 0.001). Mortality rate related to isolated ENT injuries was 1.3% (6 deaths). The majority of patients (96.9%) were treated successfully and only 3.1% of cases were discharged with permanent disabilities. Conclusion: Injuries to the ENT regions are not uncommon in our environment and foreign bodies constitute a significant cause of injury. Majority of these injuries can be prevented through public enlightenment campaigns. © 2013 Gilyoma and Chalya; licensee BioMed Central Ltd.
Sestini S.,S M Annunziata Hospital |
Gerlini G.,S M Annunziata Hospital |
Brandani P.,S M Annunziata Hospital |
Gelli R.,S M Annunziata Hospital |
And 3 more authors.
Journal of Plastic, Reconstructive and Aesthetic Surgery | Year: 2012
Background: Although showing a rapidly rising incidence, paediatric melanoma is relatively rare, accounting for 1-4% of all cases of melanoma and for 1-3% of all paediatric malignancies. The overall survival rate in paediatric patients seems to be similar to that recorded in adults. 'Animal-type' melanoma (ATM) is a rare melanoma subtype, occurring both in childhood and in adults, that shows a close histological resemblance to the heavily pigmented melanocytic tumours observed in grey and white horses. Case presentation: We present a case of ATM of the scalp with satellitosis and two positive sentinel nodes in a 4-year-old male child. No other tumour deposits were found in the subsequent regional lymphadenectomy; the patient has been tumour free for 30 months. Conclusions: We treated our case of ATM in a child as the other types of paediatric melanoma, therefore as an adult melanoma. ATM is generally considered a neoplasm with an indolent course, that occasionally shows an aggressive behaviour, and patient deaths of ATM have been reported. Due to the rarity of ATM, further studies are needed to better define the biological behaviour of this particular melanoma subtype and the therapeutic and follow-up strategies. © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
PubMed | Otorhinolaryngology Unit
Type: Case Reports | Journal: Acta bio-medica : Atenei Parmensis | Year: 2015
Enlargement of the nasolacrimal duct (NLD) in the absence of neoplasm is rare. As there are few reports on this condition in the literature, its pathologic significance and proper management remain unclear. We report a case of asymptomatic NLD enlargement incidentally discovered on high resolution computed tomography scan performed for a complicated acute sinusitis.Case report and literature review.NLD enlargement, defined as a truly isolated asymptomatic dilatation of the NLD, is rarely encountered. Etiology and clinical significance are unclear although the absence of nasolacrimal pathway or sinonasal disease and radiological findings of bone remodelling suggest that it may be congenital. In such cases, diagnosis may be incidental and based on imaging studies, and the term NLD ectasia seems to be more appropriate to describe this distinct entity. NLD enlargement may favour osteomeatal complex obstruction, thus leading to severe acute sinusitis.