Pulmonary varix: A case report.

Rev Port Cardiol. 2016 Jul 6;

Authors: Haddad J, Badran A, Pavão R, de Padua AI, Lago I, Marin Neto JA

Abstract
The authors report a case of multiple pulmonary varices, a rare disease characterized by aneurysmatic venous dilatations, which can be present at any age and without gender predominance, occurring in isolation or associated with obstruction of the pulmonary veins. This condition usually manifests as a lung mass with variable clinical consequences.

PMID: 27395560 [PubMed - as supplied by publisher]

Salivary Gland. Photon beam and particle radiotherapy: Present and future.

Oral Oncol. 2016 Jul 6;

Authors: Orlandi E, Iacovelli NA, Bonora M, Cavallo A, Fossati P

Abstract
Salivary gland cancers (SGCs) are rare diseases and their treatment depends upon histology, stage and site of origin. Radical surgery is the mainstay of treatment but radiotherapy (RT) plays a key role in both the postoperative and the inoperable setting, as well as in recurrent disease. In the absence of prospective randomized trials, a wide retrospective literature suggests postoperative RT (PORT) in patients with high risk pathological features. SGCs, and adenoid cystic carcinoma (ACC) in particular, are known to be radio-resistant tumors and should therefore respond well to particle beam therapy. Recently, excellent outcome has been reported with radical carbon ion RT (CIRT) in particular for ACC. Both modern photon- and hadron-based treatments are effective and are characterized by a favourable toxicity profile. But it is not clear whether one modality is superior to the other for disease control, due to the differences in patients' selection, techniques, fractionation schedules and outcome measurements among clinical experiences. In this paper, we review the role of photon and particle RT for malignant SGCs, discussing the difference between modalities in terms of biological and technical characteristics. RT dose and target volumes for different histologies (ACC versus non-ACC) have also been taken into consideration.

PMID: 27394087 [PubMed - as supplied by publisher]

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These pubmed results were generated on 2016/07/07

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Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

JAMA Neurol. 2016 Jul 5;

Authors: Cortés-Vicente E, Gallardo E, Martínez MÁ, Díaz-Manera J, Querol L, Rojas-García R, Illa I

Abstract
Importance: Double-seronegative myasthenia gravis (dSNMG) includes patients with myasthenia gravis (MG) without detectable antibodies to the nicotinic acetylcholine receptor (AChR) or to muscle-specific tyrosine kinase (MuSK). The lack of a biomarker hinders the diagnosis and clinical management in these patients. Cortactin, a protein acting downstream from agrin/low-density lipoprotein receptor-related protein 4 (LRP4)/MuSK, has been described as an antigen in dSNMG.
Objective: To describe the frequency and clinical features of patients with dSNMG who have cortactin antibodies.
Design, Setting, and Participants: A retrospective cross-sectional study was conducted at Hospital de la Santa Creu i Sant Pau, an institutional practice referral center in Barcelona, Spain, between May 1, 2015, and November 30, 2015. We included 250 patients with a definitive diagnosis of MG with available serum samples at the time of diagnosis. Descriptive and comparative data analyses were performed.
Exposures: Cortactin antibodies were measured by enzyme-linked immunosorbent assay and Western blot; AChR, MuSK, and anti-striated muscle antibodies were detected using a standard method; and LRP4 antibodies were tested using a cell-based assay.
Main Outcomes and Measures: The primary outcome was the frequency of patients with dSNMG who have cortactin antibodies. Secondary outcomes were demographic, clinical, neurophysiological, and laboratory data.
Results: Of 250 patients (mean [SD] age at onset, 49.7 [21.2] years; 56% female), 38 (15.2%) had dSNMG, 201 (80.4%) had MG with AChR antibodies, and 11 (4.4%) had MG with MuSK antibodies. Cortactin antibodies were identified in 28 patients with MG: 9 of 38 (23.7%) who had dSNMG, 19 of 201 (9.5%) who had MG with AChR antibodies (significantly lower than those with dSNMG: 9.5% vs 23.7%; P = .02), and 0 of 11 who had MG with MuSK antibodies; 0 of 29 controls had cortactin antibodies. At onset, among the 9 patients with dSNMG and cortactin antibodies, 6 had ocular MG and 3 had Myasthenia Gravis Foundation of America clinical classification IIA. Two patients with ocular MG developed generalized MG. The group with dSNMG and cortactin antibodies, compared with those who had MG with AChR antibodies, more frequently had mild forms at onset (100.0% vs 62.7%; P = .03), had fewer bulbar signs at maximal worsening (0% vs 41.3%; P = .01), and were younger at onset (median [interquartile range], 34.9 [9.5] vs 53.9 [38.5] years; P = .03); the group with dSNMG and cortactin antibodies also more frequently had ocular MG at onset than those with MG and AChR antibodies, although the difference was not statistically significant (66.7% vs 40.8%; P = .17). Of 17 patients with ocular dSNMG, 4 (23.5%) had antibodies to cortactin.
Conclusions and Relevance: In this study, patients with cortactin antibodies and dSNMG had an ocular or mild generalized phenotype of MG. Including the detection of cortactin antibodies in the routine diagnosis of dSNMG may be helpful in ocular MG.

PMID: 27379450 [PubMed - as supplied by publisher]

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].

An Pediatr (Barc). 2016 Jul 1;

Authors: García Teresa MA, Porto Abal R, Rodríguez Torres S, García Urabayen D, García Martínez S, Trang H, Campos Barros A, Grupo Español de Trabajo del SHCC, Llorente de la Fuente A, Hernández González A, Bustinza Arriortua A, de la Cruz Moreno J, Pons Odena M, Ventura Faci P, Rubio Ortega L, Pérez Ruiz E, Aguilar Fernández A, Pérez Ocón A, Osona B, Delgado Pecellin I, Arroyo Carrera I, Sayas Catalán J, González Salas E, de Vicente CM

Abstract
INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.
AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.
MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015.
RESULTS: The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school.
CONCLUSION: The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.

PMID: 27377324 [PubMed - as supplied by publisher]

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