Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.

Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was identified as a pharmacological chaperone for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately, there have been no pharma-driven clinical trials to establish its use. Thus, real-world observational data are needed on the safety and efficacy of ambroxol for patients with Gaucher disease (GD) and GBA-Parkinson disease (GBA-PD). Clinicians treating patients with ambroxol for GD and GBA-PD were approached to collaborate in an investigator-initiated registry. Anonymized data were collected, including demographics, GD type, GD-specific therapy (when applicable), adverse events (AEs), and, when available, efficacy data. We report the data of the first 41 patients (25 females) at a median (range) age 17 (1.5-74) from 13 centers; 11 with GD type 1(four diagnosed with PD), 27 with neuronopathic GD (nGD), and three GBA mutation carriers with PD. The median (range) treatment period and maximum dose of ambroxol were 19 (1-76) months and 435 (75-1485) mg/day, respectively. One patient with type 2 GD died of her disease. No other severe AEs were reported. Twelve patients experienced AE, including minor bowel discomfort, cough, allergic reaction, mild proteinuria, dizziness and disease progression. Clinical benefits were reported in 25 patients, including stable or improved neurological status, increased physical activity, and reduced fatigue. Until the approval of specific therapies for nGD and disease-modification for GBA-PD, these preliminary data may be encouraging to physicians and patients who consider an off-label use of ambroxol.

Primary outcomes of combined cataract extraction technique with Ab-Interno trabeculectomy and endoscopic Cyclophotocoagulation in patients with primary open angle Glaucoma.

BACKGROUND: Glaucoma surgery have been developed to lower intraocular pressure in a less invasive manner than traditional glaucoma surgery. The purpose of this article is to determine the outcome of using combined phacoemulsification technique, ab-interno trabeculectomy dual blade and endoscopic cyclophotocoagulation (ECP) surgeries in patients with primary open angle glaucoma. METHODS: A retrospective case series was performed on 27 consecutive eyes with both primary open-angle glaucoma (POAG) and cataract; each eye was treated with combined phacoemulsification, ab-interno trabeculectomy-Kahook Dual Blade and Endocyclophotocoagulation at Instituto de ojos Oftalmosalud, Lima, Peru, between April 2017 and May 2017. INCLUSION CRITERIA: 1) Patients with uncontrolled mild to advanced POAG (according to Glaucoma Grading Scale HODAPP) 2) cataract condition 3) treatment with two or more glaucoma medications due to rapid progression in the visual fields (at least two in a short period of time). Intraocular pressure (IOP), best corrected visual acuity (BCVA) logMAR and number of glaucoma medications were recorded prior to the study, at day 1, week 1, and 1,3,6 and 9 months after surgery. Primary outcome measure was surgical success defined in terms of IOP < 14 mmHg either with no medications (complete success) or with medications (qualified success). RESULTS: A total of 27 eyes from 27 patients were included. The mean basal IOP was 17.0 ± 3.7 mmHg and postoperatively was 11.6 ± 1.9 mmHg and 11.4 ± 1.8 mmHg (P < 0.001) at 6 and 9 months respectively. Glaucoma medications decreased from 1.9 ± 1.4 to 0.56 ± 1.05 at 9 month follow-ups (P < 0.001). Preoperative best corrected visual acuity (BCVA) showed and improvement from 0.4 ± 0.4 LogMAR to 0.2 ± 0.4 logMAR at 9 months. The main complication was blood reflux intra-operatively (66.7%), which resolved without re-operation. The mean IOP was reduced by 32.9% from baseline and the surgical success was 92,6%, (complete success 70,3% and qualified success 29,6%) at 9 months. CONCLUSIONS: In patients with POAG, combined treatment with phacoemulsification, ab-interno trabeculectomy and endoscopic cyclophotocoagulation effectively reduced IOP and glaucoma medication dependence.

Preprocedural imaging to guide transcoronary ethanol ablation for refractory septal ventricular tachycardia.

BACKGROUND: Radiofrequency ablation (RF) of ventricular tachycardia (VT) due to intramural foci has a high recurrence rate. Several techniques, such as bipolar ablation, irrigated needle ablation catheter, and retrograde coronary venous ethanol ablation have been suggested. Transarterial coronary ethanol ablation (TCEA) can also be effective. We present a case series of TCEA guided with preprocedural imaging to correlated coronary arteries and the intramural substrate. METHODS AND RESULTS: We present three consecutive patients with previous RF of septal VT (100% male; age, 72.6 ± 11.01 years; two patients with hypertrophic cardiomyopathy, one with mechanical aortic valve prosthesis) that underwent TCEA. Cardiac magnetic resonance was performed in two patients and cardiac CT in all patients. Correlation of septal arteries with intramural substrate was analyzed before the procedure so TCEA was attempted according to this analysis. After last TCEA (6.3 ± 2.08 months) the VT burden was reduced in all patients (sum of all implantable cardioverter-defibrillator therapies [antitachycardia pacing and shock] before and after TCEA, 15.8 ± 3.73 vs 0.97 ± 0.63 therapies/month; P = 0.02). No complications occurred during TCEA. CONCLUSIONS: TCEA completely guided with previous magnetic resonance imaging and computed tomography scan to select the coronary artery in relation to the substrate seems to be feasible as an alternative strategy in cases of intramural VT refractory to RF ablation.

Combined Phacoemulsification and 360-Degree Endocyclophotocoagulation with and without a Kahook Dual Blade in Patients with Primary Open-Angle Glaucoma.

PURPOSE: The present study aimed to compare the outcomes of combined phacoemulsification and 360-degree endocyclophotocoagulation with and without goniotomy using a Kahook Dual Blade in patients with glaucoma. PATIENTS AND METHODS: We enrolled 37 patients, 21 of whom underwent combined phacoemulsification with 360-degree endocyclophotocoagulation and goniotomy using a Kahook Dual Blade (tri-modal therapy (T-MT) group). The remaining 16 patients underwent phacoemulsification with endocyclophotocoagulation (bi-modal therapy (B-MT) group). Visual acuity, intraocular pressure, and number of glaucoma medications were recorded before the study and postoperatively on the first day, at week 1, and at 1, 3, 6, 9, and 12 months. Surgical success was defined as an IOP ≤12 mmHg and ≥6 mmHg or an at least 20% reduction in IOP from baseline with (qualified success) or without medications (complete success). RESULTS: Forty-nine eyes were included. Baseline mean IOP was 16.96±3.66 mmHg and 15.64±4.88 mmHg in the T-MT and B-MT groups (p=0.122), respectively. At the 12-month follow-up, mean IOP values were 11.44±2.15 mmHg and 12.45±1.90 mmHg (p=0.031) in the T-MT and B-MT groups, respectively. Complete success rates were 37% in the T-MT group and 31% in the B-MT group, while qualified success rates were 74% and 50%, respectively. Glaucoma medications decreased from 2.0±1.4 to 0.8±1.0 (p<0.001) in the T-MT group and from 1.5±1.3 to 1.0±1.5 in the B-MT group (p=0.032). Similar improvements in visual acuity were observed in both groups. Complications were mild and resolved without intervention. CONCLUSION: The tri-modal treatment is safe and may be more effective in reducing IOP and glaucoma medication requirements than bi-modal treatment.

[Recommendations for the prevention of foreign body aspiration]. / Recomendaciones sobre la prevención de aspiraciones de cuerpos extraños.

The aspiration of a foreign body remains a common paediatric problem, with serious consequences that can produce both acute and chronic disease. Aspiration usually causes a medical emergency that requires a prompt diagnosis and an urgent therapeutic approach as it may result in the death of the child or severe brain injury. It typically involves organic foreign bodies (mainly food or nuts) aspirated by children under 5 years old, and usually at home. In this statement, the Committee on Safety and Prevention of Non-Intentional Injury in Childhood of the Spanish Paediatrics Association provides a series of recommendations, both educational (while eating and playing), as well as legal, to prevent such episodes.

Síndrome de Boerhaave: manejo diagnóstico y terapéutico en el Hospital Regional de Talca / Boerhaave Syndrome: diagnostic and therapeutic management at the Hospital Regional de Talca

Introduction: Boerhaave syndrome is a spontaneous rupture of the esophageal wall caused by a sudden increase in intraesophageal pressure. It represents an incidence of approximately 15% of all esophageal perforations, which do not exceed 3.1 per 1 million inhabitants per year. Objectives: To communicate the clinical presentation and management of patients with this syndrome, as well as to reveal the different options available in our service for its treatment. Methods: Search in the statistical data of the regional Hospital of Talca for patients with a diagnosis of Boerhaave syndrome. Five patients were found. Information was obtained from their clinical records and is presented as a clinical case report with a descriptive analysis of their management. Results: Of the 5 clinical cases presented, a classic clinical presentation can be observed, most of the patients presented with vomiting that later evolved with thoracic and/or epigastric pain, associated with imaging studies suggesting esophageal perforation. Management was surgical in 100% of the cases, applying different techniques described in the literature. Discussion and Conclusion: Boerhaave syndrome is a medical-surgical emergency that requires timely management. In spite of the variety of management and the consequences of each one of them, all the patients had an evolution that allowed them to preserve their lives until nowadays. Keeping a high index of suspicion and choosing the best management will have an impact on morbidity and mortality.

Recomendaciones sobre la prevención de aspiraciones de cuerpos extraños / Recommendations for the prevention of foreign body aspiration

La aspiración de un cuerpo extraño sigue siendo un problema pediátrico frecuente, con graves consecuencias, pudiendo producir tanto patología aguda como crónica. Suele afectar a niños por debajo de los 5 años, normalmente en su domicilio, que aspiran por lo común alimentos o frutos secos. Esta circunstancia puede provocar una crisis de asfixia aguda, constituyendo una urgencia médica que requiere de un diagnóstico precoz y una actitud terapéutica urgente, ya que puede producir la muerte en unos minutos. En el presente artículo, el Comité de Seguridad y Prevención de Lesiones No Intencionadas en la Infancia de la Asociación Española de Pediatría proporciona una serie de recomendaciones, tanto educativas (en la alimentación y en el juego) como legales para prevenir este tipo de lesiones

The aspiration of a foreign body remains a common paediatric problem, with serious consequences that can produce both acute and chronic disease. Aspiration usually causes a medical emergency that requires a prompt diagnosis and an urgent therapeutic approach as it may result in the death of the child or severe brain injury. It typically involves organic foreign bodies (mainly food or nuts) aspirated by children under 5 years old, and usually at home. In this statement, the Committee on Safety and Prevention of Non-Intentional Injury in Childhood of the Spanish Paediatrics Association provides a series of recommendations, both educational (while eating and playing), as well as legal, to prevent such episodes)

[Recommendations of the CEVIHP/SEIP/AEP/PNS on antiretroviral treatment in HIV-infected children and teenagers]. / Recomendaciones CEVIHP/SEIP/AEP/PNS respecto al tratamiento antirretroviral en niños y adolescentes infectados por el VIH.

OBJECTIVE: To update antiretroviral recommendations in antiretroviral therapy (ART) in HIV-infected children and adolescents. METHODS: Theses guidelines have been formulated by a panel of members of the Plan Nacional sobre el SIDA (PNS) and the Asociacion Espanola de Pediatria (AEP) by reviewing the current available evidence of efficacy, safety, and pharmacokinetics in pediatric studies. Three levels of evidence have been defined according to the source of data: Level A: randomized and controlled studies; Level B: Cohort and case-control studies; Level C: Descriptive studies and experts' opinion. RESULTS: When to start ART should be made on an individual basis, discussed with the family, considering the risk of progression according to age, CD4 and viral load, the ART-related complications and adherence. The ART goal is to reach a maximum and durable viral suppression. This is not always possible, even with clinical and immunologic improvement. The difficulties of permanent adherence and side-effects are resulting in a more conservative trend to initiate ART, and to less toxic and simpler strategies. Currently, combinations of at least three drugs are of first choice both in acute and chronic infection. They must include 2 NA 1 1 NN or 2 NA 1 1 PI. ART is recommended in all symptomatic patients and, with few exceptions, in all infants in the first year of life. Older asymptomatic children should start ART according to CD4 count, especially CD4 percentage, that vary with age. Despite potent salvage therapies, it is common not to reach viral undetectability. Therapeutical options when ART fails are scarce due to cross-resistance. The cause of failure must be identified. Occasionally, there exists clinical and/or immunological progression, and a change of therapy with at least two new drugs still active for the patient, is warranted with the aim of increasing the CD4 count to a lower level of risk. Toxicity and adherence must be regularly monitored. Some aspects about post exposure prophylaxis and coinfection with HCV or HBV are discussed. CONCLUSIONS: A higher level of evidence with regard to ART effectiveness and toxicity in pediatrics is currently available, leading to a more conservative and individualized approach. Clinical symptoms and CD4 count are the main determinants to start and change ART.