RESUMO
A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 months of age with tachypnea, interstitial lung disease, and progressive pulmonary hypertension. We identified an intronic TBX4 gene variant in close proximity to the canonical donor splice site of exon 3 (hg 19; chr17:59543302; c.401 + 3 A > T), also carried by his father who had a typical TBX4-associated skeletal phenotype and mild pulmonary hypertension, and by his deceased sister who died shortly after birth of acinar dysplasia. Analysis of patient-derived cells demonstrated a significant reduction in TBX4 expression resulting from this intronic variant. Our study illustrates the variable expressivity in cardiopulmonary phenotype conferred by TBX4 mutation and the utility of genetic diagnostics in enabling accurate identification and classification of more subtly affected family members.
RESUMO
OBJECTIVES: The coronavirus pandemic created significant, abrupt challenges to the delivery of ambulatory health care. Because tertiary medical centers limited elective in-person services, telehealth was rapidly enacted in settings with minimal previous experience to allow continued access to care. With this quality improvement (QI) initiative, we aimed to achieve a virtual visit volume of at least 75% of our prepandemic volume. We also describe patient and provider experience with telehealth services. METHODS: Our QI team identified the primary drivers contributing to low telehealth volume and developed a telehealth scheduling protocol and data tracking system using QI-based strategies. Patients and providers were surveyed on their telehealth experience. RESULTS: At the onset of the pandemic, weekly visit volume dropped by 65% (99 weekly visits; historical average of 281). Over the subsequent 3 weeks, using rapid Plan-Do-Study-Act cycles, we achieved our goal volume. In surveys, it was indicated that most participants had never before used telehealth (71% of patients; 82% of providers) yet reported high satisfaction (90% of patients; 81% of providers). Both groups expressed concern over the lack of in-person assessments. Most respondents were interested in future use of telehealth. CONCLUSIONS: With a QI-based approach, we successfully maintained access to care via telehealth services for pediatric pulmonary patients during the coronavirus pandemic and found high rates of satisfaction among patients and providers. Telehealth will likely continue to be a part of our health care delivery platform, expanding the reach of our services. Further work is needed to understand the effects on clinical outcomes.
Assuntos
Instituições de Assistência Ambulatorial/organização & administração , Assistência Ambulatorial/normas , COVID-19 , Serviços de Saúde da Criança/organização & administração , Pneumopatias , Melhoria de Qualidade , Telemedicina/organização & administração , Criança , Serviços de Saúde da Criança/normas , Hospitais Pediátricos , Humanos , Pneumopatias/diagnóstico , Pneumopatias/terapia , Telemedicina/normas , Fatores de TempoRESUMO
Over the last few decades, greater numbers of tracheostomies have been performed in medically complex and fragile children to manage upper airway obstruction, progressive neuromuscular disorders, abnormal ventilatory drive and to facilitate airway clearance. The optimal timing of tracheostomy tube placement and methods to determine suitable patients for the procedure remain unclear. Caring for children with tracheostomies can have a considerable financial and psychosocial impact on a family. Pediatric patients with tracheostomies have a 2-3 fold greater morbidity and mortality compared to adult patients. Clinicians should provide as much clarity as possible for families on the positive and negative aspects of pediatric tracheotomies and long term mechanical ventilation prior to tracheostomy placement. Tracheostomies are often placed as a bridge, whilst time for healing, growth and other therapies are needed to help overcome the indication for tracheostomy. Suitable investigations used to determine the optimal timing of decannulation remain physician and institution dependent.
Assuntos
Cateterismo/métodos , Tomada de Decisão Clínica , Remoção de Dispositivo/métodos , Traqueostomia/métodos , Cateterismo/efeitos adversos , Criança , Remoção de Dispositivo/efeitos adversos , Feminino , Humanos , Masculino , Respiração Artificial , Traqueostomia/efeitos adversos , Desmame do RespiradorRESUMO
Idiopathic pulmonary hemosiderosis (IPH), a subtype of diffuse alveolar hemorrhage is a rare condition, first described by Virchow in 1864. Historically, it manifests in children in the first decade of life with the combination of hemoptysis, iron deficiency anemia, and alveolar infiltrates on chest radiograph. More recently, diffuse alveolar hemorrhage has been classified by the absence or presence of pulmonary capillaritis (PC), the latter carrying a potential for a poorer outcome. While systemic corticosteroids remain the first line treatment option, other immune modulators have been trailed including hydroxychloroquine, azathioprine, 6-mercaptopurine, and cyclophosphamide with varying results. Our case demonstrates for the first time, the successful use of intravenous cyclophosphamide in the management of chronic idiopathic PC.