Danielle H. Bodicoat1, Vincenzo Papa2, Rita Alves1, Angela Arteaga Duarte1, Luca Tofani2
1HEOR Value Hub, Brussels, Belgium
2SIFI S.p.A., 36, Via Ercole Patti, 95025 Aci S. Antonio (Catania), Italy
To describe the evidence for agents with anti-amoebic activity used to treat Acanthamoeba keratitis (AK), two systematic literature reviews (SLRs) were conducted of 1) clinical outcomes for patients with AK and 2) health economic outcomes for patients with AK or microbial keratitis (MK).
The intervention of interest was any agent with anti-amoebic activity administered as eye-drops or orally. The main outcome was clinical resolution. Electronic databases (January 1992-July 2022), conference abstracts (2017-2022), and relevant websites were hand-searched. Risk of bias assessments used external assessment tools. A narrative synthesis was conducted.
The clinical SLR (37 studies; 2043 patients) identified at least 20 studies reporting clinical resolution, best-corrected visual acuity, and corneal surgery; fewer studies reported other outcomes. Treatment regimes, outcome definitions and assessment timing varied markedly between studies. Studies classified as fair or poor quality appeared to underestimate the burden of AK compared with good quality studies. For health economic outcomes (15 studies; 1878 patients), very limited evidence in AK populations was found.
In conclusion, there was a substantial amount of clinical evidence, but scarce economic evidence. Study quality and comparability challenges should be considered when estimating the impact of AK, with substantial between-study heterogeneity limiting options for robust evidence synthesis.DOI: 10.29245/2572-9411/2023/2.1208 View / Download Pdf
Micaela Pauni1*, Cecilia Mazzuzz2, Guillermo Agosta1
1Department of Child Neurology, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
2Department of Kinesiology, Sanatorio Sagrado Corazón de OSECAC, Buenos Aires, Argentina.
Spinal muscular atrophy (SMA) is a rare, but severe disease, which is characterized by progressive muscular weakness resulting in permanent assisted ventilation before the age of 2. Supportive care used to be the only available treatment. However, relevant progress has been achieved with the approval of nusinersen (an antisense oligonucleotide modulating SMN2 splicing), which changed the disease outcome for many patients. Thus, management of SMA patients requires a multidisciplinary approach with pharmacological and non-pharmacological treatments to provide the necessary supportive care for symptom management, nutritional support and active rehabilitation to optimize muscle function. In this paper we aimed to report the first patient with type 1 SMA in the Latin America region that was able to get off the ventilator without a tracheostomy after an early treatment with nusinersen, continuing to date stable and with no need of ventilatory support.DOI: 10.29245/2572-9411/2023/1.1207 View / Download Pdf
Clinical and Genetic Characterization of Cystinosis: Unmet Healthcare Needs in a Cohort Study from a Developing Country
Paola Krall1,2* Jean Grandy3*, Lillian Bolte4,5*, Jennie Salgado6, Felipe Cavagnaro5, Claudia González7,8, Jose Luis Guerrero2,9*
1 Institute of Medicine, Faculty of Medicine, Universidad Austral de Chile, Valdivia.
2 Department of Pediatrics and Child Surgery, Faculty of Medicine, University of Chile, Santiago de Chile.
3 Department of Nephrology, Hospital Exequiel González Cortés, Santiago de Chile.
4 Department of Nephrology, Hospital Roberto del Río, Santiago de Chile.
5 Department of Pediatrics, Clínica Alemana de Santiago, Santiago de Chile.
6 Department of Nephrology, Hospital CQ Herminda Martín, Chillán.
7 Department of Nephrology, Hospital Sótero del Río, Santiago de Chile
8 Department of Pediatrics, Pontificia Universidad Católica de Chile, Santiago de Chile
9Department of Nephrology, Hospital Dr. Luis Calvo Mackenna, Santiago de Chile.
(*) all these authors contributed equally.
Cystinosis is a rare disease caused by CTNS gene defects. The main clinical presentations are nephropathic infantile cystinosis (NIC) and nephropathic juvenile cystinosis (NJC); both develop chronic kidney disease (CKD) and extrarenal complications. Opportune diagnosis and access to therapy are challenging in developing countries.
To describe the clinical and genetic profile in all cystinosis patients known to be diagnosed in Chile, we performed a retrospective review of the medical records of those patients diagnosed from 1994 to 2022. Age at diagnosis, glomerular filtration rate, metabolic variables, anthropometric values, access to treatment, outcomes, and genetic results were analyzed.
Nine patients (8NIC/1NJC) were diagnosed. Patients with NIC had a median age of 16.5 (IQR 13-23) months at diagnosis, and two patients died during follow-up. Most of the patients started cysteamine therapy up to 5 months after diagnosis and reached CKD stages 3-4 within four years. During the follow-up, all but one of the NIC patients showed height for age Z-score values between -1.5 and -4.0. Two patients received kidney transplants, and one of them remains functional after 15 years. The single NJC was a 21-year-old female patient who received irregular cysteamine therapy and rapidly reached CKD stage 5. Genetic testing was positive in 7/7 cases, being del57kb the predominant variant (10/14 alleles).
Developing countries face many challenges in providing adequate healthcare. Our findings show clinical and diagnostic aspects to the medical and patient community that might contribute to the diagnostic approach and treatment access for cystinosis in Chile. Opportune genetic testing may facilitate early diagnosis that is known to be associated with a better prognosis.DOI: 10.29245/2572-9411/2023/1.1208 View / Download Pdf
The Use of Dexmedetomidine for The Prevention of Sevoflurane Related Emergence Agitation in a Patient with Angelman Syndrome Who Underwent General Anesthesia for Magnetic Resonance Imaging. “Case Report”.
Carlos Ramírez-Paesano*, Camila Carrasco Chacón, Claudia Rodiera Clarens, Josep Rodiera Olive
Servei Central d’Anestesia (Anestalia), Centro Médico Teknon-Quironsalud, Barcelona.Spain
Angelman syndrome is the consequence of a genetic alteration in the chromosome 15 where the expression of the β3-subunits of GABA-A receptors is encoded. So, unpredictable responses to intravenous GABA-anesthetics may be the result.
We present a 19-year-old male patient with AS who required anesthesia to undergo an MRI and CT-scan. All his previous anesthetic procedures were complicated by severe emergence agitation with physical self-injury. His parents also mentioned that the patient reacted with paradoxical agitation due to benzodiazepines (midazolam) administration in previous anesthesia.
Dexmedetomidine (an α-2- adrenergic agonist) has been used in pediatric anesthesia as an adjuvant to attenuate agitation events after inhalation anesthesia. However, there are few publications on its use in patients with AS.
We describe the use of a single intravenous dose of dexmedetomidine (0.2μg/Kg) to prevent sevoflurane-related emergence agitation with good results.In addition, the potential benefits and precautions in using this non-GABA drug in patients with AS are discussed.DOI: 10.29245/2572-9411/2022/3.1207 View / Download Pdf