Multidisciplinary Treatment in Patients with Craniofacial, Neurocognitive, and Neuromuscular Disorders with Obstructive Sleep Apnea: A Systematic Review of the Literature.

Obstructive sleep apnea (OSA) is a respiratory disorder that has a high prevalence in patients with craniofacial, neurocognitive, and neuromuscular disorders. Currently, the treatments for this population are diverse and depend on the individual conditions of the patient and the severity of the case. However, there are no multidisciplinary dental treatment guidelines. The aim of the present study was to determine the multidisciplinary dental treatment alternatives in patients with craniofacial, neurocognitive, and neuromuscular disorders with a diagnosis of OSA through evidence-based medicine. A systematic review of the literature has been performed by searching scientific articles in the PubMed, Cochrane, Ovid, ScienceDirect and Scopus databases, through controlled and uncontrolled language. Articles were classified according to the level of evidence and grades of recommendation through the Scottish Intercollegiate Guidelines Network. A total of 19,439 references were identified, of which 15 articles met the predetermined requirements to be included in the investigation. The articles included for this systematic review showed that mandibular distraction osteogenesis and adenotonsilectomy are the first-choice therapies for craniofacial and neurocognitive disorders. However, for neuromuscular disorders, the findings reported were not enough to provide information about surgical or nonsurgical alternatives. Despite the reported high frequency of OSA in those children with craniofacial, neurocognitive, and neuromuscular disorders, the evidence on the surgical and nonsurgical therapeutic success for OSA in these patients is scarce. It is necessary to perform future studies to investigate successful therapies for OSA in children. [Pediatr Ann. 2024;53(2):e62-e69.].

Validation of a Spanish version of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire in children living in a high-altitude city.

OBJECTIVES: We aimed to validate a Spanish version of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire (SRBD-PSQ) in children living in a high-altitude Colombian city. METHODS: In a prospective cohort validation study, patients aged between 2 and 17 years who attended the Ear, Nose, and Throat pediatric department of our institution for symptoms related to sleep-related breathing disorders had a baseline visit at enrollment, a second visit the day scheduled for the surgical intervention, and a follow-up visit at least 3 months after the surgical intervention. In these three visits, we gathered the necessary data for assessing the criterion validity, construct validity, test-retest reliability, internal consistency, and sensitivity to change of the Spanish version of the SRBD-PSQ. RESULTS: In total, 121 patients were included in the analyses. The exploratory factor analysis (generalized least squares method, varimax rotation) yielded a four-factor structure, explaining 65.93% of the cumulative variance. The intraclass correlation coefficient (ICC) of the measurements was 0.887 (95% CI: 0.809-0.934), and the Lin concordance correlation coefficient was 0.882 (95% CI, 0.821-0.943). SRBD-PSQ scores at baseline were significantly higher than those obtained after adenotonsillectomy surgery (median [IQR] 11.0 [9.0- 14.0] vs. 4.00 [1.50-7.0]; p < 0.0001). Cronbach's α was 0.7055 for the questionnaire as a whole. CONCLUSIONS: The Spanish version of the SRBD-PSQ has acceptable construct validity, excellent test-retest reliability and sensitivity to change, and adequate internal consistency-reliability when used in pediatric patients living at high altitude with symptoms related to sleep-related breathing disorders.

Challenges and Clinical Implications of the Diagnosis of Cytomegalovirus Lung Infection in Children.

PURPOSE OF REVIEW: Pulmonary cytomegalovirus (CMV) infection is a potential lethal disease in children, but it remains a diagnostic challenge. The differentiation between latent CMV infections with viral shedding and active infections is difficult and may lead to false positives in bronchoalvolar lavage (BAL) PCR detection. This review summarizes current diagnostic approaches for CMV lung infection in children including progress in the identification of underlying immune defects linked to this condition. RECENT FINDINGS: There is increasing literature supporting that the combined assessment of host risk factors and lung disease pattern is essential for the diagnosis of pulmonary CMV infection in children. The most important host risk factor is an immunecompromised state that has expanded from primary or acquired immunodeficiency (e.g., HIV) to include a myriad of immune-dysregulation syndromes (e.g., CTLA4, PIK3 defects). Newborns, paricularly those born premature, are also a high-risk group. At the pulmonary level, active CMV infection is typically characterized by alveolar compromise leading to hypoxemia, ground-glass opacities, and intra-alveolar infiltrates with CMV inclusions in lung biopsy. The identification of active CMV lung infection should trigger additional evaluation of immune defects (primary or secondary) impairing T and NK cell function or innate antiviral responses as well as other immune dysregulation disorders. Lung CMV infections in children are more prevalent in immunocompromised hosts and premature newborns. Lung CMV infections should prompt further investigation into conditions altering immune mechanisms usually in place to contain CMV infections. Common clinical and radiological patterns such as hypoxemia and ground-glass pulmonary opacities may allow early identification and treatment of CMV lung infection and underlying causes in the pediatric population.

Moduladores CFTR (cystic fibrosis transmembrane conductance regulator): presente y futuro en la terapia de fibrosis quística. Revisión / Cystic fibrosis transmembrane conductance regulator modulators: Present and future in cystic fibrosis treatment. A review

Los moduladores cystic fibrosis transmembrane conductance regulator (CFTR) representan el presente y el futuro del manejo farmacológico para los pacientes con fibrosis quística. El objetivo de esta publicación es realizar una revisión de esta opción terapéutica. Se revisaron artículos científicos consultando las bases de datos MedLine, información disponible a través de la página oficial Cystic Fibrosis Foundation, desde 2009 hasta 2018, en el idioma inglés. Sin restricciones respecto al tipo de estudio, se seleccionaron 12 artículos que incluyeron información sobre el estado actual de la investigación sobre moduladores CFTR. Actualmente, están aprobados por la Food and Drug Administration tres moduladores: ivacaftor, lumacaftor + ivacaftor y tezacaftor + ivacaftor, y hay otros 11 en diferentes fases de estudio. La terapia con moduladores CFTR es una realidad en desarrollo que apunta al máximo objetivo de la medicina personalizada y que promete mejorar la calidad de vida de pacientes con fibrosis quística.

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are the present and future of drug management for patients with cystic fibrosis. The objective of this article is to review this therapeutic option. Scientific articles were reviewed by searching the MedLine database, which is available through the Cystic Fibrosis Foundation's official website, from 2009 to 2018, in English. Twelve articles about the current status of research in CFTR modulators were selected without restrictions regarding the type of study. To date, the United States Food and Drug Administration has approved three modulators: ivacaftor, lumacaftor + ivacaftor, and tezacaftor + ivacaftor, while other 11 drugs are being studied in different investigation phases. CFTR modulator therapy is a developing reality aimed at the highest goal of personalized medicine and promises to improve the quality of life of cystic fibrosis patients.

Cystic fibrosis transmembrane conductance regulator modulators: Present and future in cystic fibrosis treatment. A review. / Moduladores CFTR (cystic fibrosis transmembrane conductance regulator): presente y futuro en la terapia de fibrosis quística. Revisión.

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are the present and future of drug management for patients with cystic fibrosis. The objective of this article is to review this therapeutic option. Scientific articles were reviewed by searching the MedLine database, which is available through the Cystic Fibrosis Foundation's official website, from 2009 to 2018, in English. Twelve articles about the current status of research in CFTR modulators were selected without restrictions regarding the type of study. To date, the United States Food and Drug Administration has approved three modulators: ivacaftor, lumacaftor + ivacaftor, and tezacaftor + ivacaftor, while other 11 drugs are being studied in different investigation phases. CFTR modulator therapy is a developing reality aimed at the highest goal of personalized medicine and promises to improve the quality of life of cystic fibrosis patients.

Los moduladores cystic fibrosis transmembrane conductance regulator (CFTR) representan el presente y el futuro del manejo farmacológico para los pacientes con fibrosis quística. El objetivo de esta publicación es realizar una revisión de esta opción terapéutica. Se revisaron artículos científicos consultando las bases de datos MedLine, información disponible a través de la página oficial Cystic Fibrosis Foundation, desde 2009 hasta 2018, en el idioma inglés. Sin restricciones respecto al tipo de estudio, se seleccionaron 12 artículos que incluyeron información sobre el estado actual de la investigación sobre moduladores CFTR. Actualmente, están aprobados por la Food and Drug Administration tres moduladores: ivacaftor, lumacaftor + ivacaftor y tezacaftor + ivacaftor, y hay otros 11 en diferentes fases de estudio. La terapia con moduladores CFTR es una realidad en desarrollo que apunta al máximo objetivo de la medicina personalizada y que promete mejorar la calidad de vida de pacientes con fibrosis quística.

[Invasive pulmonary aspergillosis: A case report]. / Aspergilosis pulmonar invasiva: reporte de un caso.

The fungus Aspergillus spp. causes infections in immunocompromised hosts and produces a variety of clinical syndromes including lung tracheobronchial, chronic necrotizing pulmonary and allergic bronchopulmonary manifestations, as well as aspergilloma, depending on the type of host-fungus relationship involved. Aspergilloma is usually colonized by Aspergillus spp. lesions in the bronchial tree, while invasive forms are characterized by the presence of hyphae below its basement membrane. The objective of the present study was to describe the case of a pediatric patient with invasive pulmonary aspergillosis in the form of pseudomembranous tracheobronchitis, including the clinical course, diagnostic approach and paraclinical care provided. The patient was a 5-year-old female with a history of Fanconi anemia who presented with febrile neutropenia and pneumonia. Antibiotic treatment with cefepime provided no improvement in the patient´s condition and computed tomography of the thorax revealed bibasilar pulmonary opacities. Bronchoalveolar lavage and a lesion biopsy were performed after diagnostic bronchoscopy showed a white exophytic lesion. Since pathologic examination revealed numerous septate fungal hyphae exhibiting 45° branching compatible with Aspergillus spp., the patient was treated with voriconazole. Bronchoalveolar lavage culture produced fungi of the Aspergillus flavi complex. A review of pulmonary Aspergillus spp. infection in children is also included, with emphasis on the management and treatment of clinical syndromes. In pediatric patients with hematological diseases who present with febrile neutropenia and respiratory symptoms, it is essential to consider fungi as potential etiologic agents including Aspergillus spp., which is common and causes a variety of clinical syndromes.

Aspergilosis pulmonar invasiva: reporte de un caso / Invasive pulmonary aspergillosis: A case report

El hongo Aspergillus spp. causa infecciones oportunistas en huéspedes inmunocomprometidos. Cursa con una variedad de síndromes clínicos en el pulmón, que incluyen aspergilosis invasiva, aspergilosis pulmonar necrótica crónica, aspergilosis broncopulmonar alérgica y aspergiloma, cuya manifestación depende del tipo de relación con el huésped. El aspergiloma resulta de lesiones colonizadas por Aspergillus spp. en el árbol bronquial, en tanto que las formas invasivas se caracterizan por la presencia de hifas por debajo de la membrana basal del árbol bronquial. El objetivo de este trabajo es describir el caso de una paciente con aspergilosis pulmonar invasiva en su forma de traqueobronquitis seudomembranosa, considerando el curso clínico, el diagnóstico y el manejo paraclínico. Se trató de una paciente de cinco años de edad con antecedentes de anemia de Fanconi, que fue llevada a consulta con neutropenia febril y neumonía. Se inició el tratamiento antibiótico con cefepime, sin mejoría clínica. La tomografía computadorizada (TC) de tórax reveló opacidades parenquimatosas en ambas bases pulmonares. En una fibrobroncoscopia se encontró una lesión exofítica blanquecina en el bronquio principal derecho, que se sometió a biopsia, y se practicó un lavado broncoalveolar. En el examen de histopatología se hallaron hifas tabicadas a 45°, y el resultado del cultivo reveló la presencia del complejo Aspergillus flavi, por lo que se inició la administración de voriconazol. Se revisaron los reportes en la literatura científica sobre la infección pulmonar por Aspergillus spp. en niños, con énfasis en los síndromes clínicos, y en su manejo y tratamiento. Ante la presencia de síntomas respiratorios en pacientes pediátricos con enfermedades hematológicas que cursen con neutropenia febril, es indispensable considerar como agentes etiológicos los hongos, entre los cuales Aspergillus spp. se presenta frecuentemente causando diferentes síndromes clínicos.

The fungus Aspergillus spp. causes infections in immunocompromised hosts and produces a variety of clinical syndromes including lung tracheobronchial, chronic necrotizing pulmonary and allergic bronchopulmonary manifestations, as well as aspergilloma, depending on the type of host-fungus relationship involved. Aspergilloma is usually colonized by Aspergillus spp. lesions in the bronchial tree, while invasive forms are characterized by the presence of hyphae below its basement membrane. The objective of the present study was to describe the case of a pediatric patient with invasive pulmonary aspergillosis in the form of pseudomembranous tracheobronchitis, including the clinical course, diagnostic approach and paraclinical care provided. The patient was a 5-year-old female with a history of Fanconi anemia who presented with febrile neutropenia and pneumonia. Antibiotic treatment with cefepime provided no improvement in the patient´s condition and computed tomography of the thorax revealed bibasilar pulmonary opacities. Bronchoalveolar lavage and a lesion biopsy were performed after diagnostic bronchoscopy showed a white exophytic lesion. Since pathologic examination revealed numerous septate fungal hyphae exhibiting 45° branching compatible with Aspergillus spp., the patient was treated with voriconazole. Bronchoalveolar lavage culture produced fungi of the Aspergillus flavi complex. A review of pulmonary Aspergillus spp. infection in children is also included, with emphasis on the management and treatment of clinical syndromes. In pediatric patients with hematological diseases who present with febrile neutropenia and respiratory symptoms, it is essential to consider fungi as potential etiologic agents including Aspergillus spp., which is common and causes a variety of clinical syndromes.

Characterization of cytomegalovirus lung infection in non-HIV infected children.

UNLABELLED: Cytomegalovirus (CMV) is a prevalent pathogen in the immunocompromised host and invasive pneumonia is a feared complication of the virus in this population. In this pediatric case series we characterized CMV lung infection in 15 non-HIV infected children (median age 3 years; IQR 0.2-4.9 years), using current molecular and imaging diagnostic modalities, in combination with respiratory signs and symptoms. The most prominent clinical and laboratory findings included cough (100%), hypoxemia (100%), diffuse adventitious breath sounds (100%) and increased respiratory effort (93%). All patients had abnormal lung images characterized by ground glass opacity/consolidation in 80% of cases. CMV was detected in the lung either by CMV PCR in bronchoalveolar lavage (82% detection rate) or histology/immunohistochemistry in lung biopsy (100% detection rate). CMV caused respiratory failure in 47% of children infected and the overall mortality rate was 13.3%. CONCLUSION: CMV pneumonia is a potential lethal disease in non-HIV infected children that requires a high-index of suspicion. Common clinical and radiological patterns such as hypoxemia, diffuse adventitious lung sounds and ground-glass pulmonary opacities may allow early identification of CMV lung infection in the pediatric population, which may lead to prompt initiation of antiviral therapy and better clinical outcomes.