The protean role of Val804Met RET mutation in thyroid neoplasms: An example of a "MEN2C" syndrome?

BACKGROUND: Val804Met RET is one of the most common genetic alterations in Multiple Endocrine Neoplasia 2 and is considered to confer only a moderate risk for familial medullary thyroid carcinoma (MTC). The associated phenotype can however be much more complex in some cases. METHODS: A clinical, genetic, and pathological analysis was conducted on a family cluster of thyroid neoplasms associated with Val804Met RET mutation. RESULTS: All the kindreds who are carriers of the mutated RET received total thyroidectomy + /- VI level dissection. The proband presented with a pT1bN0 MTC, her 29-yo brother showed a concomitant papillary thyroid carcinoma (PTC) and MTC, their father had a pT1a PTC plus a follicular adenoma, while the uncle of the proband showed C-cell hyperplasia. None had clinical or biochemical evidence of parathyroid disorders or pheochromocytoma. CONCLUSIONS: In the presence of Val804Met RET several types of thyroid premalignant and malignant should be screened for, and without limiting to MTC.

Clinical signs, telemedicine and online consultations in head and neck diseases during the SARS CoV-2 pandemic: an Italian experience.

Objective: The aim of this paper is to describe the application of a telemedicine (TM) synchronous model designed to deliver care during the Coronavirus Disease 2019 (COVID-19) pandemic to patients with head and neck disease. Methods: The first step was to identify the classes of patients eligible for tele-examination. Mild, flu-like symptomatology represents the characteristics of the typical patient who is a candidate for tele-examination. The standard requirements for TM include a computer associated with a digital camera, alternatively a smartphone or tablet. The TM platform is based on the Lifesize™ software, which can be freely downloaded. Results: The overall number of teleconsultations was 178, of which 163 (91.5%) were managed at home, while 15 (8.5%) were invited for in-presence examination. The number of patients coming from general practitioners was 98 (55.1%), from spoke units 52 (29.2%), patients needing prompt stabilisation and transfer to the hub centre were 20 (11.2%,) while 8 (4.5%) were immediately fast-tracked in the spoke unit after multi-professional tele-consultation. Conclusions: Telemedicine improves organisational models, and provides a scalable solution to overcome problems of overcrowding, resources and time. Should these developments continue, we could face to a gradual transition to a more digital and efficient healthcare system.

Cochlear Implant Surgery: How to Fix Receiver/Stimulator Avoiding Extrusion.

Cochlear implant (CI) surgery is generally safe and associated with a limited number of complications, among which the extrusion of the receiver/stimulator (R/S) or the electrode misplacement and migration might require a CI re-implantation. The aim of this pilot study is to describe a new technique to firmly fix the R/S using the Mitek suture anchors system (Depuy Mitek Surgical Products, Inc. Raynham, Massachusetts). We tested two different models and in our experience, the web of suture created with this device can improve the stability of the bond of the R/S to the underlying curved bone surface. So, this system resulted in a less laborious manner keeping low the complication rate.

Selective neck dissection for treating node-positive necks in cases of squamous cell carcinoma of the upper aerodigestive tract.

CONTEXT AND OBJECTIVE: Modified radical neck dissection (MRND) is the classical treatment for neck metastases of squamous cell carcinoma (SCC) of the upper aerodigestive tract. However, it may still be accompanied by significant sequelae. One alternative for this treatment would be selective neck dissection (SND), which has a lower incidence of sequelae. The aim of this study was to define which neck metastasis cases would really be suitable candidates for SND. DESIGN AND SETTING: Retrospective clinical-surgical trial at the Division of Head and Neck Surgery, Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP). METHODS: We retrospectively studied 67 patients with SCC of the upper aerodigestive tract, divided into two groups: 1) 47 patients treated by means of SND (node-negative or node-positive), 2) 20 patients treated by means of MRND (all node-positive). RESULTS: Our results demonstrated that there was no difference between the patients treated with SND or MRND in relation to disease evolution, and that the main prognostic factor was lymph node involvement. We observed that patients with pharyngeal SCC and older patients presented worse evolution and would probably not be suitable candidates for SND. CONCLUSIONS: SND may be a good option for treating node-positive necks in selected cases.

Selective neck dissection for treating node-positive necks in cases of squamous cell carcinoma of the upper aerodigestive tract / Esvaziamento cervical seletivo para o tratamento do pescoço positivo em carcinomas epidermóides do trato aerodigestório alto

CONTEXT AND OBJECTIVE: Modified radical neck dissection (MRND) is the classical treatment for neck metastases of squamous cell carcinoma (SCC) of the upper aerodigestive tract. However, it may still be accompanied by significant sequelae. One alternative for this treatment would be selective neck dissection (SND), which has a lower incidence of sequelae. The aim of this study was to define which neck metastasis cases would really be suitable candidates for SND. DESIGN AND SETTING: Retrospective clinical-surgical trial at the Division of Head and Neck Surgery, Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP). METHODS: We retrospectively studied 67 patients with SCC of the upper aerodigestive tract, divided into two groups: 1) 47 patients treated by means of SND (node-negative or node-positive), 2) 20 patients treated by means of MRND (all node-positive). RESULTS: Our results demonstrated that there was no difference between the patients treated with SND or MRND in relation to disease evolution, and that the main prognostic factor was lymph node involvement. We observed that patients with pharyngeal SCC and older patients presented worse evolution and would probably not be suitable candidates for SND. CONCLUSIONS: SND may be a good option for treating node-positive necks in selected cases.

CONTEXTO E OBJETIVO: O esvaziamento cervical radical modificado (ECRM) é o tratamento clássico para as metástases cervicais do carcinoma espinocelular (CEC) do trato aerodigestório alto (TADA). Este procedimento é considerado oncologicamente satisfatório, porém pode ser acompanhado de seqüelas significativas devido à extensão do procedimento e a grande manipulação de estruturas nobres, especialmente as nervosas. Assim, tem sido proposto o esvaziamento cervical seletivo (ECS) para o tratamento de casos selecionados, pN1, pN2 sem ruptura capsular, minimizando, ou mesmo evitando, deste modo, as seqüelas do ECRM. O grande questionamento atual é a definição de quais casos seriam eleitos para este procedimento, sem alterar o resultado oncológico de médio e longo prazo. TIPO DE ESTUDO E LOCAL: Estudo clínico retrospectivo realizado na Disciplina de Cirurgia de Cabeça e Pescoço do Departamento de Cirurgia da Faculdade de Ciências Médicas da Santa Casa de São Paulo. MÉTODOS: Estudamos 67 doentes portadores de CEC do TADA de 1990 a 2001 dividindo-os em dois grupos: 1) 47 doentes tratados com ECS e 2) 20 doentes tratados com ECRM (todos N+). Os casos do grupo 1 eram clinicamente N0 e, 11 tornaram-se pN+, após o exame histopatológico. Assim, no grupo 1 obtivemos doentes pN+ tratados com ECS e seguimos estes grupos por, no mínimo, 2 anos. O grupo 2 serviu como controle da evolução dos doentes pN+. RESULTADOS: Nossos resultados mostraram que na comparação do ECS com o ECRM, não houve diferença significativa quanto à evolução (sobrevivência ou recidiva), no entanto, foi possível evidenciar uma pior evolução nos doentes N+ quando comparados aos N0, demonstrando que o principal fator prognóstico é o comprometimento linfonodal. Além disso, apesar do pequeno número de doentes, observamos que os doentes mais idosos e com CEC de faringe tiveram pior evolução e, por isto, talvez não sejam candidatos ao ECS. CONCLUSÕES: Concluímos, portanto, que o ECS pode...

Limites do esvaziamento cervical seletivo no tratamento do pescoço positivo no Carcinoma Espinocelular do Trato Aerodigestório Alto / Limits of selective neck dissection in the treatment of the neck squamous cell carcinoma positive Aerodigestório Upper Tract

A metástase linfonodal é um dos mais significantes fatores prognósticos nos doentes portadores de carcinoma espinocelular de cabeça e pescoço, sendo o esvaziamento radical modificado o tipo de tratamento classicamente utilizado para o tratamento do pescoço, quando metástases linfonodais são encontradas. Este tratamento, no entanto, é relacionado com índices altos de morbidade para o doente no pós-operatório. No nosso estudo, avaliamos a utilização do esvaziamento cervical seletivo para o tratamento de metástases limitadas. Estudamos 47 doentes tratados no Departamento de Cirurgia da Santa Casa de São Paulo de 1990 a 2001, dividindo-os em 2 grupos: 1. Tratados com esvaziamento cervical seletivo; 2. Tratados com esvaziamento radical modificado. Os nossos resultados evidenciaram que os doentes tratados com ambos os tipos de tratamento não apresentam diferença estatisticamente significante quanto à evolução, no entanto, foi possível evidenciar uma clara diferença de evolução entre os doentes que apresentavam linfonodos positivos (N+) e os que não apresentavam (N0), demonstrando que o grande fator prognóstico é realmente a presença da metástase cervical e não o tipo de tratamento utilizado. Assim, concluímos que o esvaziamento cervical seletivo parece ser um tratamento seguro para ser utilizado em doentes com tumores do trato aerodigestório alto com metástases limitadas.