Permanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the Gene.

Neonatal diabetes is an infrequent disorder that may present as transient, permanent, or syndromic. It is most commonly caused by pathogenic variants involving the ABCC8, KCNJ11, and INS genes. To describe a neonate with permanent diabetes mellitus due to a previously unreported variant in the INS gene, outlining the diagnostic complexities, therapeutic interventions, and related clinical challenges.

CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

Objective: The biallelic inheritance of an expanded intronic pentamer (AAGGG) in the gene encoding replication factor C subunit 1 () has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study describes clinical and genetic features of our patients with clinical suspicion of the syndrome.

Study Design: A retrospective descriptive study from an ataxia database comprising 500 patients.

Distribution and Chemical Speciation of Exogenous Micro- and Nanoparticles in Inflamed Soft Tissue Adjacent to Titanium and Ceramic Dental Implants.

Degradation of the implant surface and particle release/formation as an inflammation catalyst mechanism is an emerging concept in dental medicine that may help explain the pathogenesis of peri-implantitis. The aim of the present study was a synchrotron-based characterization of micro- and nanosized implant-related particles in inflamed human tissues around titanium and ceramic dental implants that exhibited signs of peri-implantitis. Size, distribution, and chemical speciation of the exogenous micro- and nanosized particle content were evaluated using synchrotron μ-X-ray fluorescence spectroscopy (XRF), nano-XRF, and μ-X-ray absorption near-edge structure (XANES).

Periprocedural Direct Oral Anticoagulant Management: The RA-ACOD Prospective, Multicenter Real-World Registry.

 There is scarce real-world experience regarding direct oral anticoagulants (DOACs) perioperative management. No study before has linked bridging therapy or DOAC-free time (pre-plus postoperative time without DOAC) with outcome. The aim of this study was to investigate real-world management and outcomes.

Salvage surgery in the treatment of local recurrences of nasopharyngeal carcinomas.

Introduction And Objectives: Chemoradiotherapy is the treatment of choice for nasopharyngeal carcinoma. Local recurrences are one of the leading causes of death in these patients, and surgical salvage the treatment of choice. Our goal was to evaluate and compare the results of salvage surgery in the treatment of local recurrence of nasopharyngeal carcinomas comparing endoscopic to open approaches.

Parapharyngeal space primary tumours.

Introduction And Objectives: The aim of this study is to present our experience with the diagnostic and therapeutic approaches for parapharyngeal space tumours.

Patients And Method: This study is a retrospective review of 90 patients diagnosed with tumours of the parapharyngeal space and treated surgically between 1984 and 2015. Patients whose tumours were not primary but invaded the parapharyngeal space expanding from another region, tumours originating in the deep lobe of the parotid gland and head and neck metastasis were excluded from this study.

Current management of sinonasal undifferentiated carcinoma.

Background: The management of sinonasal undifferentiated carcinoma (SNUC) remains unclear. Low incidence and poor outcomes make treatment standardization difficult. The objective of this study was to review the used treatment and our outcomes.

[Free flap reconstruction in the head and neck. Indications, technical aspects and outcomes].

Introduction And Objectives: The use of microvascular free flaps (MFF) has become a common method of head and neck reconstruction because of its high success rates and better functional results. We report our experience in reconstructing complex defects with MFF.

Methods: We analysed a series of 246 patients that underwent reconstruction using MFF in our Department from 1991 to 2013.

Endoscopic treatment of choanal atresia.

Introduction: Choanal atresia (CA) is an infrequent congenital obliteration of the airway at the level of the posterior nasal aperture resulting in the absence of connection between the nasal cavity and the aerodigestive tract. We present our experience with an endoscopic technique for congenital CA without the use of intranasal stents.

Material And Method: We analysed a series of 10 patients with CA treated in our department from 2006 to 2012 through endoscopic surgery.

Portal hypertensive biliopathy: A single center experience and literature review.

Portal hypertensive biliopathy (PHB) is characterized by anatomical and functional abnormalities of the intrahepatic, extrahepatic and pancreatic ducts, in patients with portal hypertension associated to extrahepatic portal vein obstruction and less frequently to cirrhosis. These morphological changes, consisting in dilatation and stenosis of the biliary tree, are due to extensive venous collaterals occurring in an attempt to decompress the portal venous blockage. It is usually asymptomatic until it progresses to more advanced stages with cholestasis, jaundice, biliary sludge, gallstones, cholangitis and finally biliary cirrhosis.

Inoculation of Treixadura musts with autochthonous Saccharomyces cerevisiae strains: fermentative performance and influence on the wine characteristics.

The fermentative ability of five autochthonous Saccharomyces cerevisiae strains (XG1, XG2, XG3, XG4 and XG5) and their influence on the chemical composition and sensory properties of Treixadura wines were evaluated. The inoculated strains have successfully led and completed the fermentations. Wines obtained from different yeasts showed significant differences in total and volatile acidity.

Endoscopic craniofacial resection. Indications and technical aspects.

Introduction: Anterior craniofacial resection (CFR) is a standardised procedure for the treatment of tumours involving the anterior skull base. We present our experience in the endoscopic treatment of these tumours.

Material And Method: A retrospective analysis was performed of patients treated by endoscopic anterior CFR in our Department from 2004 until 2011.

Endoscopic endonasal approach for the treatment of anterior skull base tumours.

Introduction: The increasing expertise of transnasal endoscopic surgery has recently expanded its indications to include the management of tumours affecting the skull base. We report our experience with endoscopic management of these tumours, emphasising the indications and surgical technique used.

Material And Method: A retrospective analysis was performed of patients treated by an endoscopic endonasal approach (EEA) in our department from 2004 until 2011.

Treatment of juvenile angiofibromas: 18-year experience of a single tertiary centre in Spain.

Background: The management of juvenile angiofibroma (JA) has changed during the last decades but it still continues to be a challenge. The objective of this study was to review the used treatment and our outcomes.

Methods: From 1992 to 2010, 48 cases of JA were treated at our department.

Multimodality approach for advanced-stage juvenile nasopharyngeal angiofibromas.

Background: Juvenile nasopharyngeal angiofibromas (JNAs) with significant skull base involvement and intracranial extension are challenging tumors. We evaluated our experience in the treatment of extensive JNAs through resection followed by radiosurgery.

Methods: From 1999 to 2007, 10 advanced JNAs (Andrews grade IV) were treated by primary surgical resection followed by gamma knife radiosurgery of residual tumor.

[Evolution in the treatment of juvenile nasopharyngeal angiofibroma].

Introduction: Juvenile nasopharyngeal angiofibroma (JNA) is a rare benign tumour in adolescent males. It may be associated with a significant morbidity because of its anatomical location and its locally destructive growth pattern. Severe haemorrhage constitutes a high risk in JNA and its surgical management could be complex.

Focal adhesion kinase and E-cadherin as markers for nodal metastasis in laryngeal cancer.

Objective: To explore the value of E-cadherin and focal adhesion kinase (FAK) expression in the prediction of cervical lymph node metastases in squamous cell carcinoma of the supraglottic larynx.

Design: Immunohistochemical analysis of retrospectively selected cases. Patients The study population was composed of 95 previously untreated men with squamous cell carcinoma of the supraglottic larynx.

Functional outcomes of transoral laser surgery of supraglottic carcinoma compared with a transcervical approach.

Background: Several functional advantages have been described for the transoral laser supraglottic laryngectomy as compared with open techniques. However, comparative studies have been rarely performed.

Methods: Functional results in 26 patients treated with a transoral approach were retrospectively compared with those of a comparable series of 26 patients who underwent a transcervical approach.