Evidence of Inhaled Tobramycin in Non-Cystic Fibrosis Bronchiectasis

There is currently less experience with inhaled tobramycin in non-cystic fibrosis bronchiectasis than in cystic fibrosis (CF). Intravenous formulation and solution for inhalation (TSI) have been studied in non-CF bronchiectasis patients with chronic P. aeruginosa bronchial infection. An improvement in clinical parameters and a reduction in bacterial density have been shown with both inhaled solutions in these patients. However, further trials are needed to determine the most effective dose and administration protocol in these patients. Based on the current evidence, recommendations cannot be made regarding the use of TSI to treat exacerbations. Although no systemic toxicity has been reported in studies specifically investigating this treatment, patients with known kidney disease or ear disorders should be treated with caution. Adverse respiratory effects are reported to be more common in non-CF patients than in CF patients, who tend to be non-smokers and younger. Research is being conducted into the possibility of combining tobramycin with other antibiotics to increase its antibacterial activity. In this review we will present and discuss the published evidence regarding the use of inhaled tobramycin in non-CF bronchiectasis

Mandibular angle augmentation using customized PEEK implants and guides generated with 3D Planning and Printing: case estudies

Mandibular angle augmentation is a procedure that, despite its obvious aesthetic and reconstructive indications, is not routinely performed, even by experienced surgeons. We present a case series of 10 patients treated with custom-made mandibular or inferior border prostheses for aesthetic concerns and sequelae following trauma or orthognathic surgery. Customized implants were designed with CAD/CAM technology, milled from Polyetheretherketone (PEEK) and 3D-printed implant placement guides were used. Ten patients (6 men and 4 women) were included; median age was 36.5 years (28-45 years). Indications for surgery were aesthetics (5 cases) and postoperative sequelae (4 orthognathic surgery and 1 mentoplasty). No significant early complications occurred, except edema and small bruises. Three patients developed wound dehiscence and prosthesis exposure, which closed spontaneously after 2-3 weeks, except one case that required a slight reduction of the upper edge of the prosthesis. No prostheses required removal. After the initial healing period there were no exposures or any late-onset infections or prosthesis intolerance. The use of customized PEEK prostheses together with tooth-supported guides provides treatment that is safe, easier surgically and more reliable. More experience is needed to define bone beauty standards to achieve the desired aesthetic result

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)

Adenocarcinoma Polimorfo de Bajo Grado de fosa nasal

Se presenta un inusual caso de Adenocarcinoma Polimorfo de Bajo Grado en estadio IV (T4N2CMx) localizado en la fosa nasal con extensión hacia región pterigoidea. El tumor primario fue tratado mediante una resección del mismo a través una osteotomía de maxilar superior tipo Lefort I y a nivel cervical se realizó un vaciamiento ganglionar cervical supraomohioideo homolateral. Posteriormente recibió tratamiento coadyuvante con radioterapia postoperatoria.An unusual case of a T4N2CMx polymorphous low grade adenocarcinoma located in the nasal fossae and extending to the pterygoid area is presented. The primary tumor was excised through a Lefort I maxillotomy and the neck was managed with a supraomohyoid neck dissection. Adjuntive postoperative radiotherapy was also administered to the patient

Validation of a Spanish version of the Leicester Cough Questionnaire in cystic fibrosis

Cough is a main symptom in cystic fibrosis (CF). We aim to validate a Spanish version of the Leicester Cough Questionnaire (LCQ-Sp) to measure the impact of cough in CF bronchiectasis. A prospective longitudinal multicentre study was performed. Internal consistency and score changes over a 15-day period in stable state were assessed to analyse reliability. Concurrent validity was analysed by correlation with Saint George's Respiratory Questionnaire (SGRQ) and convergent validity by assessing the association with clinical variables. Changes in scores between stable state and the first exacerbation were assessed to analyse responsiveness. 132 patients (29.73 ± 10.52 years) were enrolled in four hospitals. Internal consistency was high for the total score and good for the three domains (Cronbach's α 0.81-0.93). The test-retest reliability showed an intraclass correlation coefficient of 0.86 for the total score. The correlation between LCQ-Sp and SGRQ scores was -0.74. The LCQ-Sp score negatively correlated with sputum volume, and the mean score decreased at the beginning of exacerbations (16.04±3.81 vs 13.91±4.29) with a large effect size. The LCQ-Sp is a reliable, repeatable and responsive instrument to assess the impact of cough in CF bronchiectasis and is responsive to change in the event of exacerbations.Ye

Serum activin A and follistatin levels in gestational diabetes and the association of the Activin A-Follistatin system with anthropometric parameters in offspring.

CONTEXT: The Activin A-Follistatin system has emerged as an important regulator of lipid and glucose metabolism with possible repercussions on fetal growth. OBJECTIVE: To analyze circulating activin A, follistatin and follistatin-like-3 (FSTL3) levels and their relationship with glucose metabolism in pregnant women and their influence on fetal growth and neonatal adiposity. DESIGN AND METHODS: A prospective cohort was studied comprising 207 pregnant women, 129 with normal glucose tolerance (NGT) and 78 with gestational diabetes mellitus (GDM) and their offspring. Activin A, follistatin and FSTL3 levels were measured in maternal serum collected in the early third trimester of pregnancy. Serial fetal ultrasounds were performed during the third trimester to evaluate fetal growth. Neonatal anthropometry was measured to assess neonatal adiposity. RESULTS: Serum follistatin levels were significantly lower in GDM than in NGT pregnant women (8.21±2.32 ng/mL vs 9.22±3.41, P = 0.012) whereas serum FSTL3 and activin A levels were comparable between the two groups. Serum follistatin concentrations were negatively correlated with HOMA-IR and positively with ultrasound growth parameters such as fractional thigh volume estimation in the middle of the third trimester and percent fat mass at birth. Also, in the stepwise multiple linear regression analysis serum follistatin levels were negatively associated with HOMA-IR (β = -0.199, P = 0.008) and the diagnosis of gestational diabetes (β = -0.138, P = 0.049). Likewise, fractional thigh volume estimation in the middle of third trimester and percent fat mass at birth were positively determined by serum follistatin levels (β = 0.214, P = 0.005 and β = 0.231, P = 0.002, respectively). CONCLUSIONS: Circulating follistatin levels are reduced in GDM compared with NGT pregnant women and they are positively associated with fetal growth and neonatal adiposity. These data suggest a role of the Activin-Follistatin system in maternal and fetal metabolism during pregnancy