IGH 3'RR recombination uncovers a non-germinal center imprint and c-MYC-dependent IGH rearrangement in unmutated chronic lymphocytic leukemia.

Chronic lymphocytic leukemia (CLL) is an incurable indolent non-Hodgkin lymphoma characterized by tumor B cells that weakly express a B-cell receptor. The mutational status of the variable region (IGHV) within the immunoglobulin heavy chain (IGH) locus is an important prognosis indicator and raises the question of the CLL cell of origin. Mutated IGHV gene CLL are genetically imprinted by activation-induced cytidine deaminase (AID).

History of tonsillectomy and risk of oropharyngeal cancer.

Objective: To investigate whether palatine tonsillectomy in youth influences the risk of oropharyngeal cancers (OPC) by assessing the association between history of tonsillectomy and risk of tonsillar, base of tongue (BOT) cancer, and other head and neck cancers (HNC).

Materials And Methods: RACKAM was a case-case study comparing frequency of tonsillectomy history in individuals diagnosed with HNC from 2013 to 2018 in 15 centers across France. History of tonsillectomy was defined using combined assessment of patients' recollections and surgeons' visualizations of tonsil area.

Metasul vs Cerasul bearings: a prospective, randomized study at a mean eighteen years.

Background: The aims of our study were to compare the clinical, radiographic outcomes and survivals between second-generation metal-on-metal (Metasul) and ceramic-on-ceramic (Cerasul) bearings at a very long-term follow-up.

Methods: A prospective, randomized study was originally performed on a consecutive series of 250 cementless, 28-mm head and primary total hip arthroplasties between 1999 and 2002. For each bearing (Metasul or Cerasul), 125 THAs were initially included.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.

The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). We report on a series of 13 patients with AR-CMTde-SH3TC2 among a French cohort of 350 patients suffering from all type of inheritance peripheral neuropathy. The SH3TC2 gene appeared to be the most frequently mutated gene for demyelinating neuropathy in this series by NGS.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Background: The most common inherited peripheral neuropathy is Charcot-Marie-Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Background: CMTX5 is characterized by peripheral neuropathy, early-onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype-phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed of three dimers that constitute a hexamer.

A sudden bilateral hearing loss caused by inner ear hemorrhage.

Introduction: Labyrinthine hemorrhage is a rare cause of sudden deafness and generally concerns only on one side.

Case Summary: An 84-year-old man with a past medical history of myelomonocytic chronic leukemia (CMML) suffered from sudden bilateral hearing loss associated with vertigo. The audiogram revealed a left cophosis and a right profound deafness.

Guidelines (short version) of the French Society of Otorhinolaryngology (SFORL) on cervical lymphatic malformation in adults and children: Diagnosis.

Objectives: The authors present the guidelines of the French Society of Otorhinolaryngology (SFORL) for the diagnosis of cervical lymphatic malformation in adults and children.

Methods: A multidisciplinary work group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience.

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Neurofilaments are neuron-specific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter. Pathogenic variants of Neurofilament Light (NEFL) are associated with CMT1F, CMT2E, and CMTDIG and have been observed in less than 1% of Charcot-Marie-Tooth (CMT) cases, resulting in the reporting of 35 variants in 173 CMT patients to date. However, only six variants have been reported in 17 patients with impaired hearing.

[Cyto-histological correlation in the management of parotid gland tumors: A retrospective study of 160 cases].

Introduction: The aim of this study was to correlate the cytological and histological results and evaluate the diagnostic performance of fine-needle aspiration cytology (FNAC) in the management of parotid gland tumors.

Methods: This retrospective study included 160 patients with a parotid gland tumor who underwent fine-needle aspiration and parotidectomy surgery between January 2005 and August 2016 at the Limoges university hospital center.

Results: On 160 fine-needle aspirations performed, fine-needle aspiration diagnoses were: 77 benign lesions, 35 malignant lesions and 48 non-diagnostic cases.

Endoscopic Submandibular Retropharyngeal Approach to the Craniocervical Junction and Clivus: an Anatomic Study.

Introduction: Surgery of the craniocervical junction (CCJ) and clivus is technically demanding. For many years, we have used the submandibular retropharyngeal approach for surgery of the upper cervical spine, especially hangman fracture. We hypothesized that submandibular gland resection could offer a significant cranial enlargement of the operative field, up to the clivus.

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β hydrolase domain 12), of which several have been described.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysgenesis.

Head and neck lymphatic malformation and treatment: Clinical study of 23 cases.

Objectives: Head and neck lymphatic malformation is a rare benign tumor, mainly affecting children under 1 year of age. Total resection is often difficult, and recurrence is frequent. Functional and esthetic sequelae are a major issue.

Cross-biome comparison of microbial association networks.

Clinical and environmental meta-omics studies are accumulating an ever-growing amount of microbial abundance data over a wide range of ecosystems. With a sufficiently large sample number, these microbial communities can be explored by constructing and analyzing co-occurrence networks, which detect taxon associations from abundance data and can give insights into community structure. Here, we investigate how co-occurrence networks differ across biomes and which other factors influence their properties.

[Nasal tumours of the threshold and vestibule].

The nasal vestibule tumors are not very frequent. The pronostic can be severe if the first treatment is not effective. The authors present a personnal nine pateints' serie.

Metasul vs Cerasul bearings: a prospective, randomized study at 9 years.

The aims of our study were to compare metal-on-metal (Metasul) and ceramic-on-ceramic (Cerasul) bearings and to evaluate the clinical and radiographic results of these 2 different hard-on-hard bearings. We conducted a prospective, randomized study on a series of 250 cementless primary total hip arthroplasties. The prostheses were similar in all aspects except for the bearing surfaces: 50% of Metasul bearing and 50% of Cerasul bearing.

[Radiation-induced sarcoma of the head and neck].

Introduction: Radiation-induced sarcoma (RIS) of the head and neck is a late and rare complication of cancer treatment by radiation therapy. It occurs mostly within the limits of the irradiated area. Its incidence is increasing and related to an improved survival rate of treated patients.

Peripheral facial paralysis and bilateral carotid pseudoaneurysms of petrous localization: a case report.

Carotid pseudoaneurysms of petrous localization are rare. They are mostly due to trauma, tumoral or infectious diseases, or a result of iatrogenic complications after skull base surgery. Symptoms such as facial paralysis are exceptional and have rarely been described in the literature until now.

Transoral robotic surgery for head and neck cancer: a series of 17 cases.

Objectives: Transoral robotic surgery (TORS) is an innovative surgical technique indicated for resection of selected head and neck cancers. The authors report their experience and discuss the indications, advantages and disadvantages of this technique.

Materials And Methods: Seventeen patients were operated by TORS in the Limoges University Hospital ENT department between March 2010 and January 2011.

Successful treatment of anterior tracheal necrosis after total thyroidectomy using vacuum-assisted closure therapy.

Total thyroidectomy involving the adjacent structures of the trachea can cause tracheal damage such as early tracheal necrosis. The authors describe the first case of anterior tracheal necrosis following total thyroidectomy treated using vacuum-assisted closure device. After two weeks of VAC  therapy, there was no evidence of ongoing infection and the trachea was partially closed around a tracheotomy cannula, removed after 3 months.

Transoral robotic surgery for the treatment of head and neck cancer of various localizations.

Background: Transoral robotic surgery (TORS) is a recent endoscopic technique to resect selected head and neck cancers.

Study Design: In total, 13 patients underwent TORS procedure for resection of head and neck cancers of various localizations, within the ENT Department of Limoges University Hospital Center between March and October 2010.

Results: Tumor localizations were aryepiglottic fold (n = 3), pyriform sinus (n = 2), posterior pharyngeal wall (n = 2), base of tongue (n = 2), lateral pharyngeal wall (n = 2), vallecula (n = 1), and epiglottis (n = 1).