RESUMEN

Background: The denomination of noncystic fibrosis bronchiectasis (NCFB) includes several causes, and differences may be expected between the patient subgroups regarding age, comorbidities, and clinical and functional evolution. This study sought to identify the main causes of NCFB in a cohort of stable adult patients and to investigate whether such conditions would be different in their clinical, functional, and quality of life aspects. Methods: Between 2017 and 2019, all active patients with NCFB were prospectively evaluated searching for clinical data, past medical history, dyspnea severity grading, quality of life data, microbiological profile, and lung function (spirometry and six-minute walk test). Results: There was a female predominance; mean age was 54.7 years. Causes were identified in 82% of the patients, the most frequent being postinfections (n = 39), ciliary dyskinesia (CD) (n = 32), and chronic obstructive pulmonary disease (COPD) (n = 29). COPD patients were older, more often smokers (or former smokers) and with more comorbidities; they also had worse lung function (spirometry and oxygenation) and showed worse performance in the six-minute walk test (6MWT) (walked distance and exercise-induced hypoxemia). Considering the degree of dyspnea, in the more symptomatic group, patients had higher scores in the three domains and total score in SGRQ, besides having more exacerbations and more patients in home oxygen therapy. Conclusions: Causes most identified were postinfections, CD, and COPD. Patients with COPD are older and have worse pulmonary function and more comorbidities. The most symptomatic patients are clinically and functionally more severe, besides having worse quality of life.

Asunto(s)

RESUMEN

INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles. METHODS: A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber. RESULTS: The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months. CONCLUSION: Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.

Asunto(s)

RESUMEN

Objective: To evaluate the clinical response of patients with cystic fibrosis and primary ciliary dyskinesia after endoscopic sinus surgery at the Dr. Robert Reid Cabral Children's Hospital from September 2021 to February 2022. Methods: An ambispective, cross-sectional, observational case series study was conducted, where the study population was made up of patients with cystic fibrosis and primary ciliary dyskinesia at the Dr. Robert Reid Cabral children's hospital during the study period. Inclusion criteria: Patients older than 6 years with a confirmed diagnosis of cystic fibrosis and primary ciliary dyskinesia (Genetic test with 2 homozygous mutations, positives electrolytes in sweat), severe respiratory symptoms of CRS that did not improve with conventional treatment and underwent endoscopic surgery for sinuses. Results: Of a total of 41 patients, only 10 met the inclusion criteria, the most prevalent age range was 14 to 18 years. Both CF and PCD patients decreased the frequency of CRS symptoms. After ENC, there were discrete changes in lung function, and only patients with severe to moderate disease increased % of FEV1. Most of the patients did not require admission after surgery. The most common germ found in nasopharyngeal and sputum cultures in preoperative patients was Pseudomonas aeruginosa in 86%; after ESS there was a significant increase in MRSA colonization in both CF and PCD patients. More than 50% of postoperative patients improved their quality of life, so endoscopic sinus surgery is effective in this population in the treatment of chronic rhinosinusitis.

Objetivo: Evaluar la respuesta clínica de los pacientes con fibrosis quística y discinesia ciliar primaria posterior a la cirugía endoscópica de senos paranasales en el Hospital Infantil Dr. Robert Reid Cabral en el período septiembre 2021 a febrero 2022. Métodos: Se realizó un estudio observacional tipo serie de casos, de corte transversal y ambispectivo, donde la población estudiada estuvo conformada por los pacientes con fibrosis quística y discinesia ciliar primaria del hospital infantil Dr. Robert Reid Cabral en el período de estudio. Criterios de inclusión: Pacientes mayores de 6 años con diagnóstico confirmado de fibrosis quística y discinesia ciliar primaria (Prueba genética con 2 mutaciones homocigotas, electrolitos en sudor positivos), síntomas respiratorios severos de RSC que no mejoraron con tratamiento convencional y sometidos a la cirugía endoscópica de senos paranasales. Resultados: De un total de 41 pacientes, sólo 10 cumplieron con los criterios de inclusión, el rango de edad más prevalente fue de 14 a 18 años. Tanto los pacientes con FQ como los de DCP disminuyeron la frecuencia de los síntomas de RSC. Posterior a la CEN hubo cambios discretos en la función pulmonar, y sólo los pacientes con enfermedad grave a moderada aumentaron el % de FEV1. La mayoría de los pacientes no ameritaron ingresos posterior a la cirugía. El germen más común encontrado en los cultivos nasofaríngeo y esputo en los pacientes preoperatorios fue la Pseudomonas aeruginosa en el 86%, luego de la CEN hubo un aumento significativo de la colonización por MRSA tanto en los pacientes con FQ como en los de DCP. Más del 50% de los pacientes postquirúrgicos mejoraron su calidad de vida, por lo que la cirugía endoscópica de senos paranasales es efectiva en dicha población en el tratamiento de la rinosinusitis crónica.

Asunto(s)

RESUMEN

We report 4 cases of primary ciliary dyskinesia in unrelated indigenous North American children caused by identical, homozygous, likely pathogenic deletions in the DNAL1 gene. These shared DNAL1 deletions among dispersed indigenous populations suggest that primary ciliary dyskinesia accounts for more lung disease with bronchiectasis than previously recognized in indigenous North Americans.

Asunto(s)

RESUMEN

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the RSPH4A (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the island. The nNO level differentiated homozygous subjects with PCD due to the RSPH4A (c.921+3_921+6del (intronic)) founder mutation compared to healthy gender-age matched controls and subjects with VUS or negative genetic testing for PCD. The acquisition of state-of-the-art diagnostic tools such as nNO positively impacted and expanded our current PCD diagnostic capabilities in Puerto Rico for our founder genetic mutation. The addition of nNO technology promotes earlier disease screening and recognition for patients with PCD on the island. The access to nNO helped us to properly characterize the PCD diagnosis for patients with the RSPH4A (c.921+3_921+6del (intronic)). As a result, our findings will allow us to be part of the national PCD foundation registry and represent Puerto Rican Hispanics in future PCD multicentric clinical trials.

Asunto(s)

RESUMEN

Treatment of primary ciliary dyskinesia pulmonary exacerbations resulted in an increase in sputum nitric oxide (NO) metabolites and decrease in neutrophilic inflammation. The association between the 2 suggests that neutrophilic inflammation contributes to airway NO deficiency in primary ciliary dyskinesia and that reducing inflammation may lead to improved airway NO homeostasis. TRIAL REGISTRY: ClinicalTrials.gov: NCT01155115.

Asunto(s)

RESUMEN

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.

Asunto(s)

RESUMEN

Introducción. Sobre la base de un caso clínico, se presenta la descripción del cuadro intersticial por disquinesia ciliar primaria de una paciente, desde los dos meses de edad (conforme el relato de la familia) hasta los 16 años, cumplidos en el año 2021. Método. Se realizó una evaluación clínica con extensos estudios para descartar otras patologías similares. El diagnóstico definitivo fue determinado por el estudio genético para disquinesia ciliar primaria (DQCP) y otros defectos genéticos informados por el laboratorio Ambrygen, Estados Unidos. Objetivos. Describir detalladamente la evolución de la paciente durante quince años, con énfasis en los estudios mencionados. Presentar la evolución desde el nacimiento hasta el año 2021 de una recién nacida con distress respiratorio (asistencia respiratoria mecánica durante diez días), con neumonía a los pocos días de nacer y con otitis, sinusitis y neumonías recurrentes, que llega a la fecha con una calidad de vida óptima, sin sinusitis, otitis ni neumonías y con espirometría normal. Su capacidad física para realizar cualquier actividad deportiva de esfuerzo importante señala la extraordinaria respuesta a los tratamientos. Presentar los hallazgos de genética, microscopía electrónica y estudios de barrido ciliar. Resultados. Confirmado su diagnóstico de DQCP, presentamos su seguimiento actualizado hasta el año 2021. La DQCP debe ser sospechada en recién nacidos y lactantes ante la persistencia de neumonías, otitis, sinusitis y bronquitis recurrentes. (AU)

Introduction. On the basis of a clinical case, a description of the interstitial picture due to primary ciliary dyskinesia of a patient from two months of age (according to the family's report) to 15 years of age, completed in the year 2021 is presented. Methodology. Clinical evaluation based on multiple studies to rule out another similar pathology. Final diagnosis was established through genetic studies for primary ciliary diskinesia (PCDK). (Ambrygen-USA). Objective. To describe clinical, laboratory and spirometric evolution of this patient during fifteen years. Also to bedescribe evolution since birth up to the year 2021. The patient was born with respiratory distress (needed mechanical ventilation for ten days), with pneumonia a few days after delivery, and with sinusitis and recurrent pneumonia. Finally, she has now a high quality of life. No sinusitis, otitis or pneumonia and normal spirometry. She´s able to perform heavy physical efforts. We present the genetic and electron microscopy (video) studies to observe ciliary beating. Results. After confirming your DQCP diagnosis, we present your updated follow-up until 2021. DQCP should be suspected in newborns and infants in the presence of recurrent pneumonia, otitis sinusitis and bronchitis. (AU)

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)

RESUMEN

BACKGROUND Primary ciliary dyskinesia (PCD) is a disease characterized by motor ciliary dysfunction, which leads to the accumulation of secretions in the lower airways and, consequently, to atelectasis and repeated infections. During the neonatal period, diagnosis can be difficult because the symptoms are frequently associated with other respiratory diseases common in neonates. The laterality defects should warn the clinician of the need for further investigation using clinical criteria, but the confirmation depends on a genetic test. CASE REPORT The objective of this report is to present a case of PCD manifesting in the neonatal period that was diagnosed due to respiratory failure associated with recurrent atelectasis and situs inversus totalis. CONCLUSIONS This disease is not well known by neonatologists, but early diagnosis decreases morbidity and improves patient quality of life.

Asunto(s)

RESUMEN

OBJECTIVE: To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/genotype correlation in primary ciliary dyskinesia (PCD) in Chinese children. STUDY DESIGN: We recruited 50 Chinese children with PCD. Extensive clinical assessments, nasal nitric oxide, high-speed video analysis, transmission electron microscopy, and genetic testing were performed to characterize the phenotypes and genotypes of these patients. RESULTS: Common clinical features included chronic wet cough (85.4%), laterality defects (70.0%), and neonatal respiratory distress (55.8%). A high prevalence of congenital abnormalities (30.2%, 13/43), observed in patients who underwent comprehensive examination for comorbidities, included thoracic deformity (11.6%, 5/43), congenital heart disease (9.3%, 4/43), and sensorineural deafness (2.3%, 1/43). For 24 children age >6 years, the mean predicted values of forced expiratory volume in 1 second were 87.2%. Bronchiectasis evident on high-resolution computed tomography was reported in 38.1% of patients (16/42). Biallelic mutations (81 total; 57 novel) were identified in 13 genes: DNAAF3, DNAAF1, DNAH5, DNAH11, CCDC39, CCDC40, CCDC114, CCDC103, HYDIN, CCNO, DNAI1, OFD1, and SPAG1. Overall, ciliary ultrastructural and beat pattern correlated well with the genotype. However, variable phenotypes were also observed in CCDC39 and DNAH5 mutant cilia. CONCLUSIONS: This large PCD cohort in China broadens the clinical, ciliary phenotypes, and genetic characteristics of children with PCD. Our findings are roughly consistent with previous studies besides some peculiarities such as high prevalence of associated abnormalities.

Asunto(s)

RESUMEN

OBJECTIVE: To evaluate whether cystic fibrosis transmembrane conductance regulator (CFTR) variants are more common among individuals tested for primary ciliary dyskinesia (PCD) compared with controls. STUDY DESIGN: Data were studied from 1021 individuals with commercial genetic testing for suspected PCD and 91 777 controls with genetic testing at the same company (Invitae) for symptoms/diseases unrelated to PCD or CFTR testing. The prevalence of CFTR variants was compared between controls and each of 3 groups of individuals tested for PCD (PCD-positive, -uncertain, and -negative molecular diagnosis). RESULTS: The prevalence of 1 pathogenic CFTR variant was similar among the individual groups. When combining the PCD-uncertain and PCR-negative molecular diagnosis groups, there was a higher prevalence of single pathogenic CFTR variants compared with controls (P = .03). Importantly, >1% of individuals who had negative genetic testing results for PCD had 2 pathogenic CFTR variants (8 of 723), and the incidence of cystic fibrosis (CF) (2 pathogenic variants) is roughly 1 in 3000 individuals of Caucasian ethnicity (∼0.03%). This incidence was also greater than that of 2 pathogenic CFTR variants in the control population (0.09% [84 of 91 777]; P = 9.60 × 10-16). These variants correlate with mild CFTR-related disease. CONCLUSIONS: Our results suggest that a single pathogenic CFTR variant is not likely to be a PCD-mimetic, but ongoing studies are needed in individuals in whom PCD is suspected and genetic testing results are uncertain or negative. Furthermore, CF may be misdiagnosed as PCD, reflecting phenotypic overlap. Among individuals evaluated for PCD, CF should be considered in the differential even in the CF newborn screening era.

Asunto(s)

RESUMEN

INTRODUCCIÓN: La discinesia ciliar primaria es un trastorno hereditario autosómico recesivo, que afecta la función de las células ciliadas y se caracteriza por infecciones respiratorias a repetición y afecta tanto al tracto respiratorio superior e inferior, puede asociarse con trastornos de la lateralidad orgánica (síndrome de Kartagener), infertilidad y en algunos casos malformaciones. No existe un tratamiento específico; sin embargo, se tratan las infecciones agudas y se realiza seguimiento de la función pulmonar como en el caso clínico que se presenta a continuación. CASO CLÍNICO: Se trata de una mujer de 28 años, con antecedentes de dextrocardia, sinusitis, otitis, bronquitis y neumonías a repetición, asmática, con rinorrea mucoide crónica, que acudió por cuadro persistente de tos productiva y disnea de moderados esfuerzos. Al examen físico destacó: saturación de 80% con FIO2: 21%, cianosis discreta, ruidos cardiacos audibles en hemitórax derecho con reforzamiento del segundo ruido, estertores difusos y frémito aumentado. En la espirometría se detectó patrón obstructivo ­ restrictivo severo, la tomografía demostró la presencia de sinusitis maxilar y esfenoidal, dextrocardia, bronquiectasias e infiltrados difusos, poliesplenia, hepatomegalia e hígado en herradura. Se diagnosticó de síndrome de Kartagener (por dextrocardia, sinusitis y bronquiectasias). EVOLUCIÓN: Durante la estancia hospitalaria la paciente permaneció sin requerimientos de oxígeno suplementario y afebril. Recibió tratamiento antibiótico, corticoides inhalatorios y salbutamol. Se explicó a la paciente y sus familiares la benignidad de la enfermedad y el requerimiento de controles rigurosos por consulta externa. El diagnóstico definitivo por microscopía electrónica no fue realizado por falta de recursos a nivel local. CONCLUSIÓN: La discinesia ciliar primaria por lo general tiene un curso evolutivo de carácter benigno, al ser una enfermedad poco conocida su diagnóstico es tardío. La discinesia ciliar primaria debe ser considera dentro de los diagnósticos diferenciales de un paciente que presenta infecciones respiratorias a repetición.(au)

BACKGROUND: Primary ciliary dyskinesia is an inherited autosomal recessive disorder, which affects the function of ciliated cells and is characterized by recurrent upper and lower respiratory infections. It may be associated with organic laterality disorders (Kartagener syndrome), infertility and in some cases malformations. There is no specific treatment; however, acute infections management and pulmonary function surveillance is recommended, as presented in the case report. CASE REPORT: 28-year-old woman with a history of dextrocardia, sinusitis, otitis, bronchitis and recurrent pneumonia, asthmatic, with chronic mucoid rhinorrhea and recurrent episodes of productive cough and dyspnea. Physical examination revealed an oxygen saturation of 80% at room air, discrete cyanosis, and audible cardiac sounds in the right hemithorax with reinforcement of the second noise, diffuse rales and increased thrill. Pulmonary function test was positive for a severe obstructive - restrictive pattern, computed tomography revealed the presence of maxillary and sphenoid sinusitis, dextrocardia, bronchiectasis, polysplenia hepatomegaly and horseshoe liver. The diagnosis of Kartagener syndrome was made (due to dextrocardia, sinusitis and bronchiectasis). EVOLUTION: During the hospital stay the patient remained without oxygen requirements, she received antibiotic treatment plus corticosteroids and salbutamol. Patient education was carried out, indicating the benignity of the disease and the requirement of close monitoring. Definitive diagnosis by electron microscopy was not available. CONCLUSION: Primary ciliary dyskinesia usually has a benign course of evolution; being an uncommon disease, diagnosis is usually late. Primary ciliary dyskinesia should be considered within the differential diagnosis of patients with recurrent respiratory infection(au)

Asunto(s)

RESUMEN

El síndrome de Kartagener es una enfermedad hereditaria autosómica recesiva caracterizada por la asociación de discinesia ciliar primaria y la tríada situs inversus total, sinusitis crónicas y bronquiectasias. Su prevalencia varía en 1/15 000-1/30 000, pero se estima que muchos pacientes con discinesia ciliar primaria no han sido diagnosticados. Su presentación clínica es inespecífica y heterogénea, y no hay una única prueba gold standard para su diagnóstico. Esto, unido a las limitaciones y no disponibilidad de las pruebas, hace que el diagnóstico se retrase. Un diagnóstico y tratamiento adecuados de forma precoz modifican el pronóstico. En los últimos años, las sociedades han publicado algoritmos diagnósticos para pacientes con clínica sugestiva. Por ello, es importante una puesta al día y enfatizar en la necesidad de una sospecha clínica ante las manifestaciones clínicas de esta enfermedad. Se presenta a un recién nacido con este síndrome diagnosticado por estudio genético en un hospital secundario.

Kartagener Syndrome is an inherited autosomal recessive disorder characterized by primary ciliary dyskinesia and the triad of situs inversus viscerum, chronic sinus disease and bronchiectasis. Its prevalence varies from 1/15 000 to 1/30 000 but it is estimated that a lot of patients with primary ciliary dyskinesia have not been diagnosed as such. Its clinical presentation is non-specific and heterogeneous, and there is not a single, gold standard, diagnostic test. The diagnosis is often delayed because of these reasons and limitations and no availability of diagnostic tests. Early diagnosis and treatment change patient's prognosis. In addition, Scientific Societies have published recent diagnostic algorithm to evaluate the patient with suspected primary ciliary dyskinesia. Therefore, it is important to keep up to date with all the latest articles. We present the case of a newborn with this syndrome diagnosed by genetic analysis in a secondary care hospital.

Asunto(s)

RESUMEN

Introducción: El síndrome de Kartagener es una variación clínica de la discinesia ciliar primaria, se caracteriza por la triada clásica de sinusitis crónica, bronquiectasia y situs inversus (total o parcial), catalogada como enfermedad rara de herencia autosómica recesiva. Objetivo: Analizar las manifestaciones clínicas, análisis complementarios y tratamiento de los pacientes diagnosticados con síndrome de Kartagener en la República del Ecuador. Presentación de caso: Paciente femenina, de nacionalidad ecuatoriana, con manifestaciones clínicas de la tríada del síndrome de Kartagener y rasgo de infertilidad, con antecedente de sinusitis crónica desde 14 años de edad. Los estudios imagenológicos de rayos X de tórax y tomografía axial computarizada de tórax y senos paranasales confirmaron las manifestaciones de síndrome de Kartagener, que representa el séptimo caso reportado en el país. Se analizaronn las características clínicas de la serie de siete casos reportados en el Ecuador hasta el presente, correspondiente al período 2015-2018 y exámenes complementarios realizados para el diagnóstico de certeza y diferencial. Conclusiones: Se presentó el séptimo caso de síndrome de Kartagener diagnosticado en el Ecuador y se analizó la serie de una totalidad de 7 pacientes reportados en el país entre 2015-2018(AU)

Introduction: Kartagener syndrome is a clinical variation of primary ciliary dyskinesia, characterized by the classic triad of chronic sinusitis, bronchiectasis and situs inversus (total or partial), classified as a rare autosomal recessive inheritance disease. Objective: To analyze the clinical manifestations, complementary tests and treatment of patients diagnosed with Kartagener syndrome in the Republic of Ecuador. Case presentation: Female patient, of Ecuadorian nationality, with clinical manifestations of the Kartagener syndrome triad and infertility trait, with a history of chronic sinusitis since 14 years of age. Imaging studies of thorax, x-rays and computed tomography of chest and paranasal sinuses confirmed the manifestations of Kartagener syndrome, which represents the seventh case reported in the country. Respiratory evolution and therapeutic management are exposed. In this context, we analyze the clinical characteristics of the series of seven cases reported in Ecuador up to the present, corresponding to the period 2015-2018 and complementary tests performed for the certainty and differential diagnosis. Conclusions: The seventh case of Kartagener syndrome diagnosed in Ecuador is presented, and the series of a totality of 7 patients reported in the country between 2015-2018 is analyzed(AU)

Asunto(s)

RESUMEN

Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked. Studies have shown that PCD has a significant impact on the lives of patients, although there are as yet no PCD-specific markers of quality of life. To address that problem, researchers in the United Kingdom developed a quality-of-life questionnaire for patients with PCD. The present communication focuses on the process of translating that questionnaire into Brazilian Portuguese, through a partnership between researchers in Brazil and those in the United Kingdom, as well as its subsequent application in patients in Brazil.

Asunto(s)