Early onset absence epilepsy of childhood: Epidemiologic data, treatment and outcome in a sample of 56 patients born between 2000 and 2018.

PURPOSE: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology. METHODS: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset. RESULTS: Our sample is composed of 56 patients. Among the children with epilepsy onset under two years of age (11), all were still on therapy after three and six years of follow-up, and 64 % of them required polytherapy. Among patients with epilepsy onset between two and three years of age (24), 87 % were still on therapy after three years of follow-up and 68 % after six years of follow-up; 46 % of these subjects required polytherapy. Among patients with epilepsy onset between three and four years of age (21), 89 % were still on therapy after three years of follow-up and 38 % after six years of follow-up; 38 % of them required polytherapy. CONCLUSIONS: We observe that patients with an earlier epilepsy onset have a worse outcome and a lower drug sensitivity. This may allow to predict in which cases it would be appropriate to maintain antiseizure therapy for a prolonged period.

A method for bivalve shells characterization by FT-IR photoacoustic spectroscopy as a tool for environmental studies.

Fourier Transform Infrared Spectroscopy has been employed to investigate the composition of the shells of two marine bivalves Mytilus galloprovincialis and Corbula gibba from four samples collected from the Mar Piccolo of Taranto (Ionian Sea, Southern Italy). Bivalve shells are composed of 95-99.9% calcium carbonate (CaCO3), while the remaining portion is constituted by organic matrix, which in some cases may incorporate pollutants from the surrounding environment. Recognizing the role of bivalves in the carbon biogeochemical cycle and their economic importance for aquaculture, we aimed to develop a methodology for shells powder samples preparation and analysis. The main objective of the study was to demonstrate the feasibility of Fourier Transform Infrared photoacoustic spectroscopy to perform a fast sample analysis in order to detect the possible presence of pollutants in the shells. The results revealed an unbiased differentiation between the shell compositions of the two bivalve selected species. Moreover, the spectra interpretation indicated that C. gibba specimens recorded a shell matrix contaminated by organic pollutants present in the surrounding environment. In conclusion, the described methodology including sample preparation tailored for photoacoustical investigations demonstrated to be a tool for the characterization of bivalve shells contamination enhancing environmental studies of polluted marine areas.•Bivalve species were collected from sampling stations located in the Mar Piccolo of Taranto (Ionian Sea, Southern Italy).•Samples preparation stages include: sonication, grinding and fractioning by sieving.•FT-IR PAS spectral region of interest is in the mid-infrared between 4000 and 400 cm-1.

Management of obstructive pathology of the salivary glands in elderly patients: a preliminary study.

BACKGROUND: Obstructive pathology is a benign condition of the salivary glands that can affect elderly and co-morbid people. Sialoendoscopy is a minimally invasive surgical procedure with a success rate comparable to standard sialoadenectomy and has the advantage that it can be performed under local anaesthesia. METHODS: This study aimed to assess sialoendoscopy benefits in elderly patients unfit for general anaesthesia. A group of elderly patients (aged 65 years or more) undergoing sialoendoscopy under local anaesthesia were evaluated. Age, co-morbidities, surgical time, hospital stay, and complication and recurrence rates were assessed. RESULTS: Nineteen sialoendoscopies were performed in 18 elderly patients with a mean age of 69.7 ± 5.6 years, with some of them suffering from multiple co-morbidities. Surgery was successful in 16 patients, while surgery was unsuccessful in 2 patients because of intraglandular stones. The average surgical duration was 54.5 ± 30.1 minutes, and all patients were discharged 2-3 hours after surgery. No post-operative complications were found and only one patient had recurrence during follow up. CONCLUSION: Sialoendoscopy under local anaesthesia is a safe and effective procedure in elderly patients who are more prone to complications.

The role of laparoscopic surgery in isolated adrenal metastasis: our personal experience.

BACKGROUND: Over the past 25 years, mini-invasive adrenalectomy has become the treatment of choice for most adrenal diseases, and even adrenal malignancies in selected cases. The aim of this retrospective evaluation is to assess the effectiveness of laparoscopic adrenalectomy as a treatment of choice for adrenal metastases. METHODS: From 2008 to 2018, 207 laparoscopic adrenalectomies have been performed in our Department of Surgery. Among these, in 12 cases the indication to adrenalectomy was metastatic adrenal lesion. RESULTS: The right adrenal gland was removed in 8 cases and the left adrenal gland in 4 cases. A complete resection (R0) was achieved in all patients. The median operative time was 130.6 ± 23.3 min. The median postoperative hospitalization was 3.5±2.0 days. Only one patient showed postoperative grade II complications, according to Clavien-Dindo classification. All patients underwent follow-up at 6-12-18 months without showing disease recurrence. There was no intra and perioperative mortality. Conversion to laparotomic surgery has never been performed. Mean tumor size was 2.4 cm ±1.6 cm. CONCLUSIONS: Laparoscopic adrenalectomy for metastasis permits to achieve similar results to the open approach in term of oncological outcomes, but gaining in terms of postoperative hospitalization, intra and post-operative complications as well a greater patient compliance.

Tinea nigra: Report of three pediatrics cases. / Tiña negra: reporte de tres casos pediátricos.

INTRODUCTION: Tinea nigra is a superficial mycosis caused by Hortaea werneckii. Its clinical characte ristic is the appearance of a blackish brown macula of rapid growth, caused by the pigment produced by the fungus itself. The presence of a dark, fast growing, acral pigmentary lesion causes concern among patients and their treating physician about the possibility of a malignant pigmentary lesion. OBJECTIVE: To present a series of three clinical cases in pediatric patients with this pathology and to show the tools that help to make a differential diagnosis. CLINICAL CASES: Three patients between three and five years of age, which present a macular pigmented lesion on palms or soles, whose parents reported a rapid growth over a short period of time. Two of the patients reported previous trips to the Caribbean. Clinical and dermatoscopy suspicion of tinea nigra lead to a direct mycological exa mination, which confirmed the diagnosis. In all three cases, treatment with topical antifungals led to complete healing of the lesions. CONCLUSIONS: Although tinea nigra is rare in a dry climate, increasing travel of patients to tropical countries will increase the number of cases. Dermatoscopy and direct mycological examination are the tools that allow performing a correct diagnosis and avoiding unne cessary biopsies and/or surgeries.

The entity of thermal-crush-avulsion hand injury (hot-press roller burns) treated with fast acting debriding enzymes (nexobrid): literature review and report of first case.

Hand burns are present in >60% of all burn cases and in fire mass casualty incidents even up to 100%. Most trauma and especially burns may be detrimental to the complex and delicate structures of the hand by direct injury, indirect BICS (Burn Induced Compartment Syndrome and interstitial high pressure) or by delayed or faulty treatment. BICS represents a special threat as the increasing swelling and oedema of the small diameter hand and forearm will exert pressure on the capillary/venous system, eventually ending in irreversible damage to the skin, nerves, muscle and vascular bed. Immediate release of constricting skin by incisional escharotomy and sometimes fasciotomy may arrest this vicious cycle: escharotomy is simple for experienced hand or burn surgeons, but they are not always present at the primary treatment site. The diagnosis of BICS is not simple either, as the direct measurement of interstitial/compartment pressure is rarely done. Burns caused by hot rollers such as industrial linen ironing machines are especially traumatic as besides the "simple" thermal burn, the hot rollers exert immense crushing pressure to the hand caught between the rollers. Over the last few years, several publications have described the role of a newly approved Bromelain derived enzymatic debriding agent (NexoBrid) for burns in general and hand burns in particular, and its ability to resolve or prevent BICS. We present a rare severe thermal/crush hand injury case where we were able to successfully treat the patient with NexoBrid enzymatic debridement-escharotomy.

Une atteinte des mains est observée dans plus de 60% des brûlures, et dans quasiment tous les cas de catastrophes. La plupart des traumaitismes, en particulier les brûlures, peuvent être délétères pour les structures complexes et délicates de la main. Ceci peut être dû à la brûlure elle même, à un syndrome compartimental (SC), à un traitement tardif ou mal conduit. Le SC est particulièrement dangereux dans les espaces ténus de l'avant bras et de la main. L'augmentation de pression consécutive à l'oedème obère la microcirculation, entraînant au bout du compte des lésions cutanées, nerveuses, vasculaires et musculaires irréversibles. La libération immédiate des tissus ainsi comprimés par incision de décharge cutanée voire aponévrotomie peut interrompre le cercle vicieux. Il s'agit d'un geste simple pour des chirurgiens spécialisés, malheureusement pas toujours disponibles sur le site du traitement initial. Le diagnostic de SC n'est pas toujours aisé si la mesure directe des pressions tissulaires n'est pas réalisée. Les brûlures dues à des rouleaux chauffés comme ceux des presses à repasser industrielles car, outre le dégagement de chaleur, les rouleaux exercent une pression intense sur la main coincée entre eux. Depuis quelques années, plusieurs articles on décrit le rôle d'un nouvel agent de débridement enzymatique à base de bromélaïne (Nexobrid) pour le traitement des brûlures dont celles des mains ainsi que ses capacité à prévenir et traiter les SC. Nous présentons ici un cas de main de presse avec utilisation, couronnée de succès, de Nexobrid.

Tiña negra: reporte de tres casos pediátricos / Tinea nigra: report of three pediatrics cases

Resumen: Introducción: La tiña negra es una micosis superficial causada por Hortaea werneckii. Su caracte rística clínica es la aparición de una mácula café negruzca de rápido crecimiento, producto del pig mento sintetizado por el mismo hongo. Sus características pigmentarias y de rápido crecimiento, de localización preferentemente acral, genera preocupación en los pacientes y en sus médicos tratantes por la sospecha de una lesion névica en evolución. Objetivos: Presentar 3 casos clínicos de pacientes pediátricos con esta patología y dar a conocer las herramientas para su diagnóstico diferencial. Casos clínicos: Tres pacientes, edades 3 y 5 años, con lesión macular pigmentada en palmas o plantas, cuyos padres referían habían crecido en forma rápida en poco tiempo. Dos de los casos tenían antecedentes de viajes previos al Caribe. Ante la sospecha clínica y dermatoscópica de una tiña negra, se realizó exámen micológico que confirmó el diagnóstico. En todos los casos, el tratamiento con antimicóticos tópicos llevó a la resolución completa de las lesiones. Conclusión: Aunque la tiña negra es rara en un clima seco, los viajes cada vez más frecuentes de los pacientes a países tropicales, probablemente aumentarán el número de casos. La dermatoscopía y el examen micológico son las herramientas que permiten realizar un correcto diagnóstico, evitando biopsias y/o cirugías innecesarias.

Abstract: Introduction: Tinea nigra is a superficial mycosis caused by Hortaea werneckii. Its clinical characte ristic is the appearance of a blackish brown macula of rapid growth, caused by the pigment produced by the fungus itself. The presence of a dark, fast growing, acral pigmentary lesion causes concern among patients and their treating physician about the possibility of a malignant pigmentary lesion. Objective: To present a series of three clinical cases in pediatric patients with this pathology and to show the tools that help to make a differential diagnosis. Clinical cases: Three patients between three and five years of age, which present a macular pigmented lesion on palms or soles, whose parents reported a rapid growth over a short period of time. Two of the patients reported previous trips to the Caribbean. Clinical and dermatoscopy suspicion of tinea nigra lead to a direct mycological exa mination, which confirmed the diagnosis. In all three cases, treatment with topical antifungals led to complete healing of the lesions. Conclusions: Although tinea nigra is rare in a dry climate, increasing travel of patients to tropical countries will increase the number of cases. Dermatoscopy and direct mycological examination are the tools that allow performing a correct diagnosis and avoiding unne cessary biopsies and/or surgeries.

[Onychomadesis secondary to hand-foot-mouth disease: a frequent manifestation and cause of concern for parents]. / Onicomadesis secundaria a enfermedad pie-mano-boca: una manifestación frecuente y motivo de preocupación de los padres.

INTRODUCTION: Nail alterations in children are an important cause of parent anxiety and derive in multiple and unnecessary consultations. The onychomadesis corresponds to the complete and pain less detachment of the nail plate from the proximal fold. This self-resolving nail finding has been described as a late complication of hand-foot-mouth disease, a frequent viral exanthema in the pedia tric age. OBJECTIVE: To describe a classic pediatric case of hand-foot-mouth disease with subsequent onychomadesis. CLINICAL CASE: A 3-years-old male patient with an acute presentation of acute erythe matous perioral papulovesicles, which extend to upper extremities and hands, buttocks, thighs and feet, asymptomatic, and without compromising general condition. Skin lesions resolve completely, but after one month, he develops detachment of the nails, with subsequent complete recovery. Con clusions: The recognition of this association will allow primary care physicians to guide the parents about a benign and self-resolving process that may occur as part of the evolution of hand-foot-mouth disease, thus avoiding unnecessary anxiety, referral and treatments.

Onicomadesis secundaria a enfermedad pie-mano-boca: una manifestación frecuente y motivo de preocupación de los padres / Onychomadesis secondary to hand-foot-mouth disease: a frequent manifestation and cause of concern for parents

INTRODUCCIÓN: Las alteraciones ungueales en niños provocan gran ansiedad en los padres y múltiples consultas en su mayoría innecesarias. La onicomadesis corresponde al despegamiento completo e indoloro de la lámina ungueal desde el pliegue proximal. Este hallazgo ungueal autoresolutivo se ha descrito como una complicación tardía de la enfermedad pie-mano-boca, exantema viral frecuente en la edad pediátrica. OBJETIVO: Reportar un caso pediátrico clásico de enfermedad pie-mano-boca que evolucionó con onicomadesis y revisión de la literatura. CASO CLÍNICO: Paciente masculino de 3 años de edad, con cuadro agudo de microampollas eritematosas, peribucales en un comienzo, luego brazos y manos, glúteos, muslo y pies, asintomático y sin compromiso del estado general. Se reali za diagnóstico clínico de enfermedad pie-mano-boca. Evoluciona con resolución total de lesiones cutáneas , pero al mes, desprendimiento completo de uñas, las que se recuperan con posterioridad. CONCLUSIÓN: El reconocimiento de la asociación entre enfermedad pie-mano-boca con onicomadesis nos permite orientar a los padres sobre un fenómeno benigno y transitorio que puede ocurrir como parte de la evolución de esta virosis, evitando así la ansiedad, derivación y tratamientos innecesarios.

INTRODUCTION: Nail alterations in children are an important cause of parent anxiety and derive in multiple and unnecessary consultations. The onychomadesis corresponds to the complete and pain less detachment of the nail plate from the proximal fold. This self-resolving nail finding has been described as a late complication of hand-foot-mouth disease, a frequent viral exanthema in the pedia tric age. OBJECTIVE: To describe a classic pediatric case of hand-foot-mouth disease with subsequent onychomadesis. CLINICAL CASE: A 3-years-old male patient with an acute presentation of acute erythe matous perioral papulovesicles, which extend to upper extremities and hands, buttocks, thighs and feet, asymptomatic, and without compromising general condition. Skin lesions resolve completely, but after one month, he develops detachment of the nails, with subsequent complete recovery. CONCLUSIONS: The recognition of this association will allow primary care physicians to guide the parents about a benign and self-resolving process that may occur as part of the evolution of hand-foot-mouth disease, thus avoiding unnecessary anxiety, referral and treatments.

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

OBJECTIVE: To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome. MATERIAL AND METHODS: The electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures were retrospectively analysed, and long-term follow-up of epilepsy was evaluated. RESULTS: Epilepsy onset was marked by generalized seizures in 53% of patients, epileptic spasms in 51%, focal seizures in 26%, atypical absences in 11% and epileptic falls in 9%. The epileptic syndromes defined were: generalized epilepsy (26.7%), focal epilepsy (22.3%), epileptic encephalopathy with epileptic spasms as the only seizure type (17.7%) and Lennox-Gastaut syndrome (33.3%). Drug-resistant epilepsy was detected in 55.5% of patients. There was a significant higher prevalence of seizure-free patients in those with seizure onset after the age of 5 years and with focal epilepsy, with respect to those with earlier epilepsy onset because most of these later developed an epileptic encephalopathy (69.2% vs 34.4%; P = .03), usually Lennox-Gastaut Syndrome in type. In fact, among patients with early-onset epilepsy, those presenting with epileptic spasms as the only seizure type associated with classical hypsarrhythmia achieved seizure freedom (P < .001) compared to patients with spasms and other seizure types associated with modified hypsarrhythmia. CONCLUSIONS: Epilepsy in inv dup (15) leads to a more severe burden of disease. Frequently, these patients show drug resistance, in particular when epilepsy onset is before the age of five and features epileptic encephalopathy.

The supraclavicular artery island flap (SCAIF) in head and neck reconstruction: an Italian multi-institutional experience.

The supraclavicular artery island flap (SCAIF) is a thin and pliable pedicled flap that is easy and quick to harvest. Thanks to its particular features and high reliability, it is best indicated for the elderly or most fragile patients. SCAIF is very versatile, as it can be used for reconstruction of oral cavity, oropharynx, hypopharynx, facial and cervical skin and tracheostomal defects. We began using this flap in four Italian tertiary referral centres, with several indications, both as first treatment and as salvage surgery. The aim of the study was to demonstrate the easy reproducibility of the flap among four different centres. A series of 28 patients underwent head and neck reconstructions with SCAIF with no recorded complications during flap harvesting. After the very first cases, harvesting time was approximately 45 minutes; 24 patients had successful flap integration at the recipient site, while the remaining 4 suffered from partial flap necrosis, two of whom needed revision surgery. Other minor complications were reported at the recipient site, always at the most distal and most delicate portion of the flap. Donor site was always closed primarily, with only three cases of partial suture dehiscence. We only selected the most fragile patients for SCAIF reconstruction, such as the elderly or those with one or more comorbidities; for this reason, we reported some serious systemic complications and one intraoperative death. SCAIF is an easy reproducible flap, with multiple possible indications. Its use as an alternative to free flaps in the head and neck region is nowadays under discussion. Its use should be encouraged among head and neck surgeons thanks to its various advantages.

Long-term Follow-up and Post-relapse Outcome of Patients with Localized Retroperitoneal Sarcoma Treated in the Italian Sarcoma Group-Soft Tissue Sarcoma (ISG-STS) Protocol 0303.

BACKGROUND: This study was designed to assess patterns of recurrence and long-term outcomes of patients undergoing surgery for localized retroperitoneal sarcoma (RPS) after neoadjuvant high dose long-infusion ifosfamide (HLI) and radiotherapy (RT). METHODS: Patients received three cycles of HLI (14 g/m2). RT was started in combination with II cycle up to a total dose of 50.4 Gy. Surgery was scheduled 4-6 weeks after the end of RT. The primary endpoint was relapse-free survival (RFS) after surgery. Secondary endpoints were overall survival (OS), crude cumulative incidence of local recurrence (CCI-LR), and distant metastases (CCI-DM). For patients who relapsed, progression-free survival (PFS) and post-relapse OS were estimated. The trial was registered with ITASARC_*II_2004_003. RESULTS: Between 2003 and 2010, 83 patients were recruited. At a median follow-up of 91.7 months, 42 (56%) of 75 operated patients developed LR (n = 27) or DM (n = 10) or both LR and DM (n = 5) relapse. Seven-year RFS was 46.6% [95% confidence interval (CI) 29.6-52.4]. Thirty-two patients died. Seven-year OS rate was 63.2% (95% CI 42.7-66.0). The corresponding CCI of LR and DM were 37.4% [standard error (SE) 5.5%] and 20.0% (SE 12.6%), respectively. The only factor significantly associated with LR was FNCLCC grading, whereas histological subtype resulted associated with DM. At recurrence, 24 patients (57%) underwent surgery. Two-year post-relapse PFS and OS rates for patients developing LR or DM were 14.8, 41.0, 27.3, and 63.6%, respectively. CONCLUSIONS: LR after neoadjuvant CT-RT for RPS were predominantly infield. While almost one half of relapsed patients underwent further surgery, prognosis was poor.

Pneumonia due to Talaromyces marneffei in a Dog from Southern Brazil with Concomitant Canine Distemper Virus Infection.

The pathological and molecular findings associated with Talaromyces marneffei-induced pneumonia with concomitant infection by canine distemper virus (CDV) are described in a dog. The principal pathological alteration occurred in the lungs. Histopathology confirmed multifocal granulomatous pneumonia associated with numerous intralesional and intracellular septate fission cells consistent with T. marneffei. A molecular assay designed to amplify a partial fragment of the 18S rRNA gene of T. marneffei provided positive results from two fungal cultures derived from the lung. Sequencing and phylogenetic analyses confirmed the results of polymerase chain reaction (PCR). Furthermore, antigens of the CDV N protein were identified within the bronchial epithelium by immunohistochemistry and a PCR assay amplified the CDV N gene from hepatic and pulmonary fragments. Collectively, the pathological and molecular techniques confirmed a diagnosis of T. marneffei-induced pneumonia with concomitant infection by CDV. These findings represent the first description of pulmonary penicilliosis in the dog and extend the geographical niche of this emerging infectious pathogen. In this case, infection by CDV may have induced immunosuppression, which facilitated the development of pulmonary penicilliosis.

Neuroimaging Changes in Menkes Disease, Part 2.

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Pyogenic Ventriculitis and Ventricular Empyema associated with Staphylococcus pseudintermedius in a Puppy.

A 40-day-old male, blue heeler puppy with hindlimb ataxia, nystagmus, apathy, motor incoordination and hyperaesthesia of the forelimbs died 3 days after the onset of clinical signs. Significant gross findings included cerebellar herniation, cerebral oedema and dilation of the third and right lateral cerebral ventricles due to the accumulation of a purulent exudate. Histopathological examination revealed pyogenic ventriculitis and purulent meningoencephalitis. Pure colonies of a coagulase-positive Staphylococcus were isolated from the purulent cerebral exudate. A polymerase chain reaction assay that targeted the 16S rRNA gene of bacteria amplified the desired product from bacterial colonies. Direct sequencing revealed the organism to be Staphylococcus pseudintermedius. Phylogenetic analyses showed that the organism was antigenically similar to Staphylococcus intermedius and Staphylococcus delphini, being part of the S. intermedius group of bacteria. These findings confirmed the participation of S. pseudintermedius in the development of the pathological manifestations and lesions observed in this puppy.

Open partial horizontal laryngectomies: is it time to adopt a modular form of consent for the intervention?

Nowadays, open partial horizontal laryngectomies (OPHLs) are well-established procedures for treatment of laryngeal cancer. Their uniqueness is the possibility to modulate the intervention intraoperatively, according to eventual tumour extension. An OPHL procedure is not easy to understand: there are several types of procedures and the possibility to modulate the intervention can produce confusion and lack of adherence to the treatment from the patient. Even if the surgery is tailored to a patient's specific lesion, a unified consent form that discloses any possible extensions, including a total laryngectomy, is still needed. We reviewed the English literature on informed consent, and propose comprehensive Information and Consent Forms for OPHLs. The Information Form is intended to answer any possible questions about the procedure, while remaining easy to read and understand for the patient. It includes sections on laryngeal anatomy and physiology, surgical aims and indications, alternatives to surgery, complications, and physiology of the operated larynx. The Consent Form is written in a "modular" way: the surgeon defines the precise extension of the lesion, chooses the best OPHL procedure and highlights all possible expected extensions specific for the patient. Our intention, providing these forms both in Italian and in English, is to optimise communication between the patient and surgeon, improving surgical procedure arrangements and preventing any possible misunderstandings and medico-legal litigation.

Parapharyngeal space tumours: video-assisted minimally invasive transcervical approach.

The purpose of the present study was to evaluate the advantages of a video-assisted, minimally invasive transcervical approach to benign and malignant parapharyngeal space (PPS) tumours. Ten patients affected by benign and malignant PPS neoplasms underwent a combined transcervical and video-assisted minimally invasive approach, using Hopkins telescopes. We describe the operative technique and perform a review of the literature. Definitive histology revealed 3 pleomorphic adenomas, 2 schwannomas, 2 metastatic papillary thyroid carcinomas, one carcinoma ex pleomorphic adenoma, one cavernous haemangioma and one basal cell adenoma. Mean tumour size was 37.2 mm (range: 19-60). Operation time ranged from 75 min to 185 min (mean: 146.7). One case was converted to transcervical-transparotid approach. Patients were discharged on postoperative day 2-5. One patients presented hypoglossal nerve paresis. The minimally invasive video-assisted transcervical approach is safe and feasible for selected benign and malignant PPS tumours. Furthermore, it offers harmless dissection in a deep and narrow space, accurate haemostasis and continuous control of critical anatomic structures.

Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.

BACKGROUND: Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments. METHOD: A total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11.2-q13 deletion and 3 UBE3A mutation) were enrolled in our study. All of them underwent an assessment protocol including neurological and neurovisual examination and the evaluation of motor (Gross Motor Function Measure Scale), cognitive (Griffiths Mental Development Scale and Uzgiris-Hunt Scale); adaptive (Vineland Adaptive Behavioural Scale); communication (MacArthur-Bates Communicative Development Inventory and video-recordings children's verbal expression), behavioural aspects (IPDDAG Scale) and neurovisual aspects. RESULTS: All children presented motor function involvement. A severe cognitive impairment was detected with different profiles according to the test applied. In all cases, communicative disability (phonemic inventory, word/gesture comprehension and production) and symptoms of inattention disorder were revealed. Neurovisual impairment was characterized by refractive errors, fundus oculi anomalies, strabismus and/or oculomotor dysfunction. CONCLUSION: AS presents a complex neurodevelopmental profile in which several aspects play a negative role in global development leading to a severe functional impairment. Intellectual disability is not the only component because neurovisual functions and behavioural disorders may worsen the global function and are needed of specific rehabilitation programs.